Helena Bioinformatics · JSON-LD Context
Helena Bio Context
JSON-LD context defining the semantic vocabulary for Helena Bio from Helena Bioinformatics.
120 Classes
510 Properties
4 Namespaces
Namespaces
schema:
https://schema.org/
xsd:
http://www.w3.org/2001/XMLSchema#
dcterms:
http://purl.org/dc/terms/
helena:
https://helena.bio/schema#
Classes
AdRiskResponseSchema
AdRiskResultSchema
AllDatabasesStatusResponse
AnnotationRecord
Association
BackupLevel
BackupListResponse
BackupStatus
BackupStatusResponse
BackupSummary
BrowserExonPextOut
BrowserGeneOut
BrowserLeadOut
BrowserOverviewResponse
BrowserReferenceCodonOut
BrowserReferenceResponse
BrowserReferenceTranscriptOut
BrowserRegionOut
BrowserRegionResponse
BrowserSnvOut
BrowserSvOut
Candidate
CarrierResponseSchema
CarrierResultSchema
CatalogEntry
CatalogRequest
CatalogResponse
CheckResultResponse
ClassifierVersionResponse
ClinVarExportSuggestions
ClinVarLiteExportRequest
ClinVarLiteExportResponse
ClinicalAxis
ClinicalConsequenceRecord
ClinicalConsequencesData
ClinicalVariantExample
ClinicalVariantsData
CodingSegment
ConstraintData
ConstraintMetric
ConversionMetadataSchema
CreateFamilyFromJointVcfRequest
CreateFamilyFromSeparateVcfsRequest
CreateNoteRequest
CreateOverrideRequest
CurationResponse
CurationStateResponse
CytobandBand
CytobandResponse
DatabaseDetailResponse
DatabaseStatusSchema
DeleteBackupResponse
DiscordanceRequest
DiscordanceResponse
DiscordanceVariantResponse
DiscoveryRecord
DiseaseAssertion
DiseaseContextRequest
DiseaseContextRow
DiseaseData
DiseaseRequest
DistributionBin
DosageAssertion
DosageData
EffectiveClassificationResponse
Exon
ExpressionData
ExpressionRecord
FamilyFromJointVcfResponse
FamilyPublicResponse
FlagVariantRequest
FlagVariantResponse
Freshness
FreshnessSchema
GeneAggregated
GeneAggregatedResponse
GeneDiseaseResponse
GeneIdentity
GeneLiteratureRequest
GeneLiteratureResponse
GeneRequest
GwasData
GwasRecord
HTTPValidationError
InternalUpdateStoragePathsRequest
JointVcfSampleMapping
MechanismAssertion
MechanismsData
MtdnaCurationFields
NoteAuthor
NoteResponse
NotesListResponse
OverrideEntry
OverrideResultResponse
OverridesListResponse
OverviewData
PangenomeBubble
PangenomeBubbleEvidence
PangenomeEdge
PangenomeGraphResponse
PangenomeMeta
PangenomeNode
PangenomePath
PangenomePrivateVariant
ParquetStatusSchema
PhenotypeRecord
PhenotypesData
ProfileRequest
ProfileResponse
ProteinCrossReference
ProteinPathwaysData
ProteinRecord
PublicAtlasClassCounts
PublicAtlasStatisticsReadyResponse
PublicAtlasStatisticsUnavailableResponse
PublicClinVarEvidence
PublicConservationEvidence
PublicDosageEvidence
PublicExpertEvidence
PublicExternalLinks
Properties
| Property | Type | Container |
|---|---|---|
| session_id | string | |
| total_ad_risk | integer | |
| findings | list | |
| variant_idx | integer | |
| gene_symbol | string | |
| risk_type | string | |
| inheritance_mode | string | |
| disease_name | ||
| clinical_note | string | |
| recurrence_risk | string | |
| confidence | string | |
| acmg_class | string | |
| chromosome | string | |
| position | integer | |
| genotype | string | |
| hgvs_protein | ||
| transcript_id | ||
| transcript_representations | ||
| hgvs_cdna | ||
| rsid | ||
| global_af | ||
| review_stars | ||
| reference_db | reference | |
| databases | list | |
| is_user_flagged | boolean | |
| user_flag_comment | ||
| flagged_by | ||
| acmg_override_class | ||
| acmg_class_original | ||
| override_reason | ||
| overridden_by | ||
| geneSymbol | string | |
| hgncId | ||
| diseaseName | string | |
| diseaseId | string | |
| modeOfInheritance | string | |
| modeOfInheritanceId | ||
| classification | string | |
| expertPanel | ||
| reportUrl | ||
| classificationDate | ||
| sopVersion | ||
| backups | list | |
| total | integer | |
| backup_id | string | |
| status | reference | |
| progress | integer | |
| current_step | string | |
| error | ||
| level | string | |
| created_at | ||
| completed_at | ||
| duration_seconds | ||
| total_size_bytes | integer | |
| chrom | string | |
| gene | string | |
| exonStart | integer | |
| exonEnd | integer | |
| maxTissuePext | decimal | |
| meanPext | decimal | |
| brainCortexPext | ||
| wholeBloodPext | ||
| tier | string | |
| symbol | string | |
| start | integer | |
| end | integer | |
| strand | ||
| exons | list | |
| pos | integer | |
| snvs | list | |
| svs | list | |
| lead | ||
| bases | string | |
| aminoAcid | string | |
| proteinPosition | integer | |
| genomicPositions | list | |
| sequence | string | |
| transcript | ||
| transcriptId | string | |
| proteinId | ||
| cds | list | |
| codons | list | |
| axis | string | |
| iscaId | ||
| score | ||
| genes | list | |
| regions | list | |
| pext | list | |
| cls | ||
| hgvs | ||
| ref | ||
| alt | ||
| bayesdelNoaf | ||
| bayesdelNoafPred | ||
| spliceaiMax | ||
| spliceaiPred | ||
| phylop | ||
| gerp | ||
| alphamissense | ||
| sift | ||
| metasvm | ||
| dann | ||
| mpc | ||
| af | ||
| afGrpmax | ||
| popmax | ||
| hom | ||
| loeuf | ||
| misZ | ||
| pli | ||
| clinvarSig | ||
| reviewStars | ||
| clinvarId | ||
| criteria | ||
| consequence | ||
| impact | ||
| hgvsCdna | ||
| transcriptRepresentations | ||
| exonNumber | ||
| domains | ||
| pm1Source | ||
| vcepApplied | ||
| vcepPanel | ||
| deNovo | ||
| hiScore | ||
| tsScore | ||
| svType | ||
| identity | reference | |
| match_types | list | |
| matched_terms | list | |
| total_carriers | integer | |
| ar_carrier_count | integer | |
| xl_carrier_count | integer | |
| carriers | list | |
| carrier_type | string | |
| gene_id | string | |
| canonical_symbol | string | |
| request_id | string | |
| snapshot_id | ||
| limit | integer | |
| cursor | ||
| schema_version | string | |
| count_unit | string | |
| entries | list | |
| returned | integer | |
| next_cursor | ||
| critical | integer | |
| high | integer | |
| medium | integer | |
| low | integer | |
| variants | list | |
| version | string | |
| label | string | |
| contract_version | integer | |
| hgvs_candidates | list | |
| suggested_hgvs | ||
| requires_hgvs_validation | boolean | |
| hgvs_name | string | |
| rationale | string | |
| evidence_codes | list | |
| mode_of_inheritance | string | |
| expert_review_confirmed | boolean | |
| hgvs_validated | boolean | |
| expected_classification | string | |
| condition_id_type | ||
| condition_id_value | ||
| preferred_condition_name | ||
| collection_method | string | |
| allele_origin | string | |
| affected_status | string | |
| number_of_individuals | integer | |
| citations | list | |
| local_id | ||
| public_url | ||
| variation_identifiers | list | |
| alternate_designations | list | |
| clinvar_accession | ||
| record_status | ||
| package_name | string | |
| package_base64 | string | |
| upload_files | list | |
| manifest | ||
| represented_variations | integer | |
| classification_counts | list | |
| review_status_counts | list | |
| source_id | string | |
| so_id | string | |
| term | string | |
| axes | list | |
| kind | string | |
| eligible_variations | integer | |
| membership_rule | string | |
| consequence_scope | string | |
| records | list | |
| variation_id | string | |
| name | string | |
| variant_type | string | |
| germline | ||
| germline_review_status | ||
| somatic_clinical_impact | ||
| somatic_review_status | ||
| oncogenicity | ||
| oncogenicity_review_status | ||
| source_url | string | |
| resolver_allele | ||
| resolver_status | string | |
| unique_variation_total | integer | |
| variant_type_counts | list | |
| example_selection | string | |
| rank | integer | |
| phase | integer | |
| source_gene_id | ||
| source_gene_namespace | ||
| source_canonical | ||
| source_mane_select | ||
| selection_rule | string | |
| oe_lof | ||
| oe_lof_lower | ||
| oe_lof_upper | ||
| observed_lof | ||
| oe_missense | ||
| oe_missense_lower | ||
| oe_missense_upper | ||
| observed_missense | ||
| expected_lof | ||
| missense_z | ||
| quality_flags | list | |
| expected_synonymous | ||
| expected_missense | ||
| display_status | string | |
| gene_flags | list | |
| constraint_flags | list | |
| reported_metrics | ||
| start_time | ||
| elapsed_seconds | ||
| elapsed_human | ||
| successful_chromosomes | ||
| failed_chromosomes | ||
| vcf_file_path | string | |
| family_name | ||
| family_notes | ||
| inheritance_hypothesis | ||
| sample_role_mapping | list | |
| staging_session_id | ||
| filtering_preset | string | |
| members | list | |
| text | string | |
| new_class | string | |
| pipeline_class | string | |
| reason | string | |
| curation_fields | reference | |
| curation_state | reference | |
| effective_classification | reference | |
| curated_by | ||
| audit_event_id | ||
| validation_warnings | list | |
| has_curated_flags | ||
| strength_enums | ||
| pp1_disqualified | boolean | |
| curated_contributed | boolean | |
| emitted_curated_criteria | list | |
| start_pos | integer | |
| end_pos | integer | |
| band_name | ||
| gie_stain | ||
| arm | ||
| coord_system | string | |
| bands | list | |
| display_name | string | |
| description | ||
| priority | integer | |
| enabled | boolean | |
| license_required | boolean | |
| vep_required | boolean | |
| source | reference | |
| parquet | reference | |
| freshness | reference | |
| validation | reference | |
| detail | ||
| deleted | boolean | |
| checks | ||
| max_results_per_check | integer | |
| classifier_version_current | string | |
| classifier_version_data | string | |
| total_variants_analyzed | integer | |
| total_discordances | integer | |
| summary | ||
| format_warnings | list | |
| acmg_criteria | ||
| severity | string | |
| extra | ||
| work_id | string | |
| pmid | ||
| title | string | |
| journal | ||
| publication_date | ||
| doi | ||
| rank_score | decimal | |
| relation | string | |
| assertion_id | string | |
| disease_id | string | |
| inheritance | ||
| curation_date | ||
| panel | ||
| criteria_version | ||
| report_url | string | |
| mechanism | ||
| allelic_requirement | ||
| mirrored_assertion_id | ||
| original_disease_id | ||
| submitter | ||
| mechanism_support | ||
| variant_consequence | ||
| pmids | list | |
| rows | list | |
| phenotype_terms | list | |
| offset | integer | |
| disease | string | |
| count | integer | |
| evaluated_at | ||
| pipeline_acmg_class | string | |
| pipeline_criteria | string | |
| evaluator_acmg_class | ||
| evaluator_criteria | string | |
| cat_m_messages | list | |
| ensembl_gene_id | string | |
| tissue_id | string | |
| tissue_label | string | |
| median_tpm | ||
| unit | string | |
| statistic | string | |
| sample_count | ||
| category_type | string | |
| family | reference | |
| session_ids | list | |
| id | string | |
| created_by | string | |
| organization_id | string | |
| notes | ||
| updated_at | ||
| comment | string | |
| email_sent | boolean | |
| message | string | |
| last_source_check | ||
| stale | boolean | |
| stale_reason | ||
| source_age_days | ||
| parquet_age_days | ||
| cache_ttl_days | ||
| is_within_ttl | ||
| suggested_action | ||
| variant_count | integer | |
| best_acmg_class | ||
| best_acmg_priority | integer | |
| best_impact | ||
| best_priority_score | ||
| pathogenic_count | integer | |
| likely_pathogenic_count | integer | |
| vus_count | integer | |
| likely_benign_count | integer | |
| benign_count | integer | |
| mtdna_variant_count | integer | |
| total_genes | integer | |
| total_variants | integer | |
| page | integer | |
| page_size | integer | |
| total_pages | integer | |
| has_next_page | boolean | |
| has_previous_page | boolean | |
| contractVersion | string | |
| query | reference | |
| associations | list | |
| pagination | reference | |
| warnings | list | |
| usage_boundary | reference | |
| locus_type | string | |
| aliases | list | |
| previous_symbols | list | |
| ensembl_ids | list | |
| ncbi_gene_ids | list | |
| replacement_gene_ids | list | |
| sort | string | |
| owner | string | |
| captured_at | string | |
| capture_sha256 | string | |
| owner_contract_version | string | |
| owner_returned_count | integer | |
| filtered_unsafe_link_count | integer | |
| has_more | boolean | |
| semantic_index_used | boolean | |
| semantic_degraded_reason | ||
| graph_used | boolean | |
| graph_version | ||
| graph_degraded_reason | ||
| limits | list | |
| association_id | string | |
| association_identity_kind | string | |
| study_accession | string | |
| trait | string | |
| trait_ids | list | |
| mapped_trait | string | |
| reported_genes | string | |
| mapped_genes | string | |
| variant | string | |
| p_value | string | |
| p_value_context | ||
| odds_ratio_or_beta | ||
| confidence_interval | ||
| gene_assignment | string | |
| gene_assignments | list | |
| mapped_gene_context | list | |
| log_storage_path | string | |
| results_storage_path | string | |
| sample_name | string | |
| family_role | string | |
| sex | ||
| clinical_profile | ||
| support | ||
| mt_ps2_strength | ||
| mt_ps3_evidence | ||
| mt_ps4_proband_count | ||
| mt_ps4_haplogroup_diversity_count | ||
| mt_pm6_strength | ||
| mt_pp1_maternal_member_count | ||
| mt_pp1_homoplasmic_in_all | ||
| mt_pp1_heteroplasmy_correlation | ||
| mt_pp4_etc_deficiency | ||
| mt_bs2_strength | ||
| mt_bs3_evidence | ||
| mt_bs4_evidence | ||
| mt_bp5_evidence | ||
| initials | string | |
| user | reference | |
| total_count | integer | |
| overrides | list | |
| summary_source_id | ||
| alleles | list | |
| evidence | ||
| snv | ||
| from | string | |
| to | string | |
| nodes | list | |
| edges | list | |
| paths | list | |
| bubbles | list | |
| privateVariants | list | |
| meta | reference | |
| locus | string | |
| coordinateSystem | string | |
| inferredPhasing | boolean | |
| x | decimal | |
| y | decimal | |
| length | integer | |
| bubbleId | ||
| route | list | |
| bold | boolean | |
| acmgClass | ||
| exists | boolean | |
| path | string | |
| partitions | integer | |
| partitions_expected | integer | |
| total_size_human | string | |
| last_modified | ||
| row_count | ||
| conversion_metadata | ||
| phenotype_id | string | |
| phenotype_label | ||
| generated_at | string | |
| sources | ||
| sections | ||
| database | string | |
| accession | string | |
| entry_name | string | |
| reviewed | boolean | |
| protein_name | string | |
| protein_length | integer | |
| function_text | ||
| function_evidence | list | |
| pathway_text | ||
| cross_references | list | |
| pathogenic | integer | |
| likely_pathogenic | integer | |
| uncertain_significance | integer | |
| likely_benign | integer | |
| benign | integer | |
| classes | reference | |
| observed_at | dateTime | |
| retryable | boolean | |
| clinical_significance | ||
| review_status | ||
| disease_names | list | |
| protein_representation | ||
| canonical_url | ||
| availability | string | |
| phylop100way_vertebrate | ||
| gerp_rs | ||
| haploinsufficiency_score | ||
| triplosensitivity_score | ||
| vcep_applied | boolean | |
| vcep_panel | ||
| erepo_assertion | ||
| erepo_panel | ||
| erepo_disease | ||
| erepo_summary | ||
| erepo_url | ||
| clinvar | ||
| gnomad | ||
| ensembl_gene | ||
| ensembl_transcript | ||
| clingen_erepo |
JSON-LD Document
{
"@context": {
"@vocab": "https://helena.bio/schema#",
"schema": "https://schema.org/",
"xsd": "http://www.w3.org/2001/XMLSchema#",
"dcterms": "http://purl.org/dc/terms/",
"helena": "https://helena.bio/schema#",
"AdRiskResponseSchema": "helena:AdRiskResponseSchema",
"session_id": {
"@id": "helena:session_id",
"@type": "xsd:string"
},
"total_ad_risk": {
"@id": "helena:total_ad_risk",
"@type": "xsd:integer"
},
"findings": {
"@id": "helena:findings",
"@container": "@list"
},
"AdRiskResultSchema": "helena:AdRiskResultSchema",
"variant_idx": {
"@id": "helena:variant_idx",
"@type": "xsd:integer"
},
"gene_symbol": {
"@id": "helena:gene_symbol",
"@type": "xsd:string"
},
"risk_type": {
"@id": "helena:risk_type",
"@type": "xsd:string"
},
"inheritance_mode": {
"@id": "helena:inheritance_mode",
"@type": "xsd:string"
},
"disease_name": {
"@id": "helena:disease_name"
},
"clinical_note": {
"@id": "helena:clinical_note",
"@type": "xsd:string"
},
"recurrence_risk": {
"@id": "helena:recurrence_risk",
"@type": "xsd:string"
},
"confidence": {
"@id": "helena:confidence",
"@type": "xsd:string"
},
"acmg_class": {
"@id": "helena:acmg_class",
"@type": "xsd:string"
},
"chromosome": {
"@id": "helena:chromosome",
"@type": "xsd:string"
},
"position": {
"@id": "helena:position",
"@type": "xsd:integer"
},
"genotype": {
"@id": "helena:genotype",
"@type": "xsd:string"
},
"hgvs_protein": {
"@id": "helena:hgvs_protein"
},
"transcript_id": {
"@id": "helena:transcript_id"
},
"transcript_representations": {
"@id": "helena:transcript_representations"
},
"hgvs_cdna": {
"@id": "helena:hgvs_cdna"
},
"rsid": {
"@id": "helena:rsid"
},
"global_af": {
"@id": "helena:global_af"
},
"review_stars": {
"@id": "helena:review_stars"
},
"AllDatabasesStatusResponse": "helena:AllDatabasesStatusResponse",
"reference_db": {
"@id": "helena:reference_db",
"@type": "@id"
},
"databases": {
"@id": "helena:databases",
"@container": "@list"
},
"AnnotationRecord": "helena:AnnotationRecord",
"is_user_flagged": {
"@id": "helena:is_user_flagged",
"@type": "xsd:boolean"
},
"user_flag_comment": {
"@id": "helena:user_flag_comment"
},
"flagged_by": {
"@id": "helena:flagged_by"
},
"acmg_override_class": {
"@id": "helena:acmg_override_class"
},
"acmg_class_original": {
"@id": "helena:acmg_class_original"
},
"override_reason": {
"@id": "helena:override_reason"
},
"overridden_by": {
"@id": "helena:overridden_by"
},
"Association": "helena:Association",
"geneSymbol": {
"@id": "helena:geneSymbol",
"@type": "xsd:string"
},
"hgncId": {
"@id": "helena:hgncId"
},
"diseaseName": {
"@id": "helena:diseaseName",
"@type": "xsd:string"
},
"diseaseId": {
"@id": "helena:diseaseId",
"@type": "xsd:string"
},
"modeOfInheritance": {
"@id": "helena:modeOfInheritance",
"@type": "xsd:string"
},
"modeOfInheritanceId": {
"@id": "helena:modeOfInheritanceId"
},
"classification": {
"@id": "helena:classification",
"@type": "xsd:string"
},
"expertPanel": {
"@id": "helena:expertPanel"
},
"reportUrl": {
"@id": "helena:reportUrl"
},
"classificationDate": {
"@id": "helena:classificationDate"
},
"sopVersion": {
"@id": "helena:sopVersion"
},
"BackupLevel": "helena:BackupLevel",
"BackupListResponse": "helena:BackupListResponse",
"backups": {
"@id": "helena:backups",
"@container": "@list"
},
"total": {
"@id": "helena:total",
"@type": "xsd:integer"
},
"BackupStatus": "helena:BackupStatus",
"BackupStatusResponse": "helena:BackupStatusResponse",
"backup_id": {
"@id": "helena:backup_id",
"@type": "xsd:string"
},
"status": {
"@id": "helena:status",
"@type": "@id"
},
"progress": {
"@id": "helena:progress",
"@type": "xsd:integer"
},
"current_step": {
"@id": "helena:current_step",
"@type": "xsd:string"
},
"error": {
"@id": "helena:error"
},
"BackupSummary": "helena:BackupSummary",
"level": {
"@id": "helena:level",
"@type": "xsd:string"
},
"created_at": {
"@id": "helena:created_at"
},
"completed_at": {
"@id": "helena:completed_at"
},
"duration_seconds": {
"@id": "helena:duration_seconds"
},
"total_size_bytes": {
"@id": "helena:total_size_bytes",
"@type": "xsd:integer"
},
"BrowserExonPextOut": "helena:BrowserExonPextOut",
"chrom": {
"@id": "helena:chrom",
"@type": "xsd:string"
},
"gene": {
"@id": "helena:gene",
"@type": "xsd:string"
},
"exonStart": {
"@id": "helena:exonStart",
"@type": "xsd:integer"
},
"exonEnd": {
"@id": "helena:exonEnd",
"@type": "xsd:integer"
},
"maxTissuePext": {
"@id": "helena:maxTissuePext",
"@type": "xsd:decimal"
},
"meanPext": {
"@id": "helena:meanPext",
"@type": "xsd:decimal"
},
"brainCortexPext": {
"@id": "helena:brainCortexPext"
},
"wholeBloodPext": {
"@id": "helena:wholeBloodPext"
},
"tier": {
"@id": "helena:tier",
"@type": "xsd:string"
},
"BrowserGeneOut": "helena:BrowserGeneOut",
"symbol": {
"@id": "helena:symbol",
"@type": "xsd:string"
},
"start": {
"@id": "helena:start",
"@type": "xsd:integer"
},
"end": {
"@id": "helena:end",
"@type": "xsd:integer"
},
"strand": {
"@id": "helena:strand"
},
"exons": {
"@id": "helena:exons",
"@container": "@list"
},
"BrowserLeadOut": "helena:BrowserLeadOut",
"pos": {
"@id": "helena:pos",
"@type": "xsd:integer"
},
"BrowserOverviewResponse": "helena:BrowserOverviewResponse",
"snvs": {
"@id": "helena:snvs",
"@container": "@list"
},
"svs": {
"@id": "helena:svs",
"@container": "@list"
},
"lead": {
"@id": "helena:lead"
},
"BrowserReferenceCodonOut": "helena:BrowserReferenceCodonOut",
"bases": {
"@id": "helena:bases",
"@type": "xsd:string"
},
"aminoAcid": {
"@id": "helena:aminoAcid",
"@type": "xsd:string"
},
"proteinPosition": {
"@id": "helena:proteinPosition",
"@type": "xsd:integer"
},
"genomicPositions": {
"@id": "helena:genomicPositions",
"@container": "@list"
},
"BrowserReferenceResponse": "helena:BrowserReferenceResponse",
"sequence": {
"@id": "helena:sequence",
"@type": "xsd:string"
},
"transcript": {
"@id": "helena:transcript"
},
"BrowserReferenceTranscriptOut": "helena:BrowserReferenceTranscriptOut",
"transcriptId": {
"@id": "helena:transcriptId",
"@type": "xsd:string"
},
"proteinId": {
"@id": "helena:proteinId"
},
"cds": {
"@id": "helena:cds",
"@container": "@list"
},
"codons": {
"@id": "helena:codons",
"@container": "@list"
},
"BrowserRegionOut": "helena:BrowserRegionOut",
"axis": {
"@id": "helena:axis",
"@type": "xsd:string"
},
"iscaId": {
"@id": "helena:iscaId"
},
"score": {
"@id": "helena:score"
},
"BrowserRegionResponse": "helena:BrowserRegionResponse",
"genes": {
"@id": "helena:genes",
"@container": "@list"
},
"regions": {
"@id": "helena:regions",
"@container": "@list"
},
"pext": {
"@id": "helena:pext",
"@container": "@list"
},
"BrowserSnvOut": "helena:BrowserSnvOut",
"cls": {
"@id": "helena:cls"
},
"hgvs": {
"@id": "helena:hgvs"
},
"ref": {
"@id": "helena:ref"
},
"alt": {
"@id": "helena:alt"
},
"bayesdelNoaf": {
"@id": "helena:bayesdelNoaf"
},
"bayesdelNoafPred": {
"@id": "helena:bayesdelNoafPred"
},
"spliceaiMax": {
"@id": "helena:spliceaiMax"
},
"spliceaiPred": {
"@id": "helena:spliceaiPred"
},
"phylop": {
"@id": "helena:phylop"
},
"gerp": {
"@id": "helena:gerp"
},
"alphamissense": {
"@id": "helena:alphamissense"
},
"sift": {
"@id": "helena:sift"
},
"metasvm": {
"@id": "helena:metasvm"
},
"dann": {
"@id": "helena:dann"
},
"mpc": {
"@id": "helena:mpc"
},
"af": {
"@id": "helena:af"
},
"afGrpmax": {
"@id": "helena:afGrpmax"
},
"popmax": {
"@id": "helena:popmax"
},
"hom": {
"@id": "helena:hom"
},
"loeuf": {
"@id": "helena:loeuf"
},
"misZ": {
"@id": "helena:misZ"
},
"pli": {
"@id": "helena:pli"
},
"clinvarSig": {
"@id": "helena:clinvarSig"
},
"reviewStars": {
"@id": "helena:reviewStars"
},
"clinvarId": {
"@id": "helena:clinvarId"
},
"criteria": {
"@id": "helena:criteria"
},
"consequence": {
"@id": "helena:consequence"
},
"impact": {
"@id": "helena:impact"
},
"hgvsCdna": {
"@id": "helena:hgvsCdna"
},
"transcriptRepresentations": {
"@id": "helena:transcriptRepresentations"
},
"exonNumber": {
"@id": "helena:exonNumber"
},
"domains": {
"@id": "helena:domains"
},
"pm1Source": {
"@id": "helena:pm1Source"
},
"vcepApplied": {
"@id": "helena:vcepApplied"
},
"vcepPanel": {
"@id": "helena:vcepPanel"
},
"deNovo": {
"@id": "helena:deNovo"
},
"hiScore": {
"@id": "helena:hiScore"
},
"tsScore": {
"@id": "helena:tsScore"
},
"BrowserSvOut": "helena:BrowserSvOut",
"svType": {
"@id": "helena:svType"
},
"Candidate": "helena:Candidate",
"identity": {
"@id": "helena:identity",
"@type": "@id"
},
"match_types": {
"@id": "helena:match_types",
"@container": "@list"
},
"matched_terms": {
"@id": "helena:matched_terms",
"@container": "@list"
},
"CarrierResponseSchema": "helena:CarrierResponseSchema",
"total_carriers": {
"@id": "helena:total_carriers",
"@type": "xsd:integer"
},
"ar_carrier_count": {
"@id": "helena:ar_carrier_count",
"@type": "xsd:integer"
},
"xl_carrier_count": {
"@id": "helena:xl_carrier_count",
"@type": "xsd:integer"
},
"carriers": {
"@id": "helena:carriers",
"@container": "@list"
},
"CarrierResultSchema": "helena:CarrierResultSchema",
"carrier_type": {
"@id": "helena:carrier_type",
"@type": "xsd:string"
},
"CatalogEntry": "helena:CatalogEntry",
"gene_id": {
"@id": "helena:gene_id",
"@type": "xsd:string"
},
"canonical_symbol": {
"@id": "helena:canonical_symbol",
"@type": "xsd:string"
},
"CatalogRequest": "helena:CatalogRequest",
"request_id": {
"@id": "helena:request_id",
"@type": "xsd:string"
},
"snapshot_id": {
"@id": "helena:snapshot_id"
},
"limit": {
"@id": "helena:limit",
"@type": "xsd:integer"
},
"cursor": {
"@id": "helena:cursor"
},
"CatalogResponse": "helena:CatalogResponse",
"schema_version": {
"@id": "helena:schema_version",
"@type": "xsd:string"
},
"count_unit": {
"@id": "helena:count_unit",
"@type": "xsd:string"
},
"entries": {
"@id": "helena:entries",
"@container": "@list"
},
"returned": {
"@id": "helena:returned",
"@type": "xsd:integer"
},
"next_cursor": {
"@id": "helena:next_cursor"
},
"CheckResultResponse": "helena:CheckResultResponse",
"critical": {
"@id": "helena:critical",
"@type": "xsd:integer"
},
"high": {
"@id": "helena:high",
"@type": "xsd:integer"
},
"medium": {
"@id": "helena:medium",
"@type": "xsd:integer"
},
"low": {
"@id": "helena:low",
"@type": "xsd:integer"
},
"variants": {
"@id": "helena:variants",
"@container": "@list"
},
"ClassifierVersionResponse": "helena:ClassifierVersionResponse",
"version": {
"@id": "helena:version",
"@type": "xsd:string"
},
"label": {
"@id": "helena:label",
"@type": "xsd:string"
},
"ClinVarExportSuggestions": "helena:ClinVarExportSuggestions",
"contract_version": {
"@id": "helena:contract_version",
"@type": "xsd:integer"
},
"hgvs_candidates": {
"@id": "helena:hgvs_candidates",
"@container": "@list"
},
"suggested_hgvs": {
"@id": "helena:suggested_hgvs"
},
"requires_hgvs_validation": {
"@id": "helena:requires_hgvs_validation",
"@type": "xsd:boolean"
},
"ClinVarLiteExportRequest": "helena:ClinVarLiteExportRequest",
"hgvs_name": {
"@id": "helena:hgvs_name",
"@type": "xsd:string"
},
"rationale": {
"@id": "helena:rationale",
"@type": "xsd:string"
},
"evidence_codes": {
"@id": "helena:evidence_codes",
"@container": "@list"
},
"mode_of_inheritance": {
"@id": "helena:mode_of_inheritance",
"@type": "xsd:string"
},
"expert_review_confirmed": {
"@id": "helena:expert_review_confirmed",
"@type": "xsd:boolean"
},
"hgvs_validated": {
"@id": "helena:hgvs_validated",
"@type": "xsd:boolean"
},
"expected_classification": {
"@id": "helena:expected_classification",
"@type": "xsd:string"
},
"condition_id_type": {
"@id": "helena:condition_id_type"
},
"condition_id_value": {
"@id": "helena:condition_id_value"
},
"preferred_condition_name": {
"@id": "helena:preferred_condition_name"
},
"collection_method": {
"@id": "helena:collection_method",
"@type": "xsd:string"
},
"allele_origin": {
"@id": "helena:allele_origin",
"@type": "xsd:string"
},
"affected_status": {
"@id": "helena:affected_status",
"@type": "xsd:string"
},
"number_of_individuals": {
"@id": "helena:number_of_individuals",
"@type": "xsd:integer"
},
"citations": {
"@id": "helena:citations",
"@container": "@list"
},
"local_id": {
"@id": "helena:local_id"
},
"public_url": {
"@id": "helena:public_url"
},
"variation_identifiers": {
"@id": "helena:variation_identifiers",
"@container": "@list"
},
"alternate_designations": {
"@id": "helena:alternate_designations",
"@container": "@list"
},
"clinvar_accession": {
"@id": "helena:clinvar_accession"
},
"record_status": {
"@id": "helena:record_status"
},
"ClinVarLiteExportResponse": "helena:ClinVarLiteExportResponse",
"package_name": {
"@id": "helena:package_name",
"@type": "xsd:string"
},
"package_base64": {
"@id": "helena:package_base64",
"@type": "xsd:string"
},
"upload_files": {
"@id": "helena:upload_files",
"@container": "@list"
},
"manifest": {
"@id": "helena:manifest"
},
"ClinicalAxis": "helena:ClinicalAxis",
"represented_variations": {
"@id": "helena:represented_variations",
"@type": "xsd:integer"
},
"classification_counts": {
"@id": "helena:classification_counts",
"@container": "@list"
},
"review_status_counts": {
"@id": "helena:review_status_counts",
"@container": "@list"
},
"ClinicalConsequenceRecord": "helena:ClinicalConsequenceRecord",
"source_id": {
"@id": "helena:source_id",
"@type": "xsd:string"
},
"so_id": {
"@id": "helena:so_id",
"@type": "xsd:string"
},
"term": {
"@id": "helena:term",
"@type": "xsd:string"
},
"axes": {
"@id": "helena:axes",
"@container": "@list"
},
"ClinicalConsequencesData": "helena:ClinicalConsequencesData",
"kind": {
"@id": "helena:kind",
"@type": "xsd:string"
},
"eligible_variations": {
"@id": "helena:eligible_variations",
"@type": "xsd:integer"
},
"membership_rule": {
"@id": "helena:membership_rule",
"@type": "xsd:string"
},
"consequence_scope": {
"@id": "helena:consequence_scope",
"@type": "xsd:string"
},
"records": {
"@id": "helena:records",
"@container": "@list"
},
"ClinicalVariantExample": "helena:ClinicalVariantExample",
"variation_id": {
"@id": "helena:variation_id",
"@type": "xsd:string"
},
"name": {
"@id": "helena:name",
"@type": "xsd:string"
},
"variant_type": {
"@id": "helena:variant_type",
"@type": "xsd:string"
},
"germline": {
"@id": "helena:germline"
},
"germline_review_status": {
"@id": "helena:germline_review_status"
},
"somatic_clinical_impact": {
"@id": "helena:somatic_clinical_impact"
},
"somatic_review_status": {
"@id": "helena:somatic_review_status"
},
"oncogenicity": {
"@id": "helena:oncogenicity"
},
"oncogenicity_review_status": {
"@id": "helena:oncogenicity_review_status"
},
"source_url": {
"@id": "helena:source_url",
"@type": "xsd:string"
},
"resolver_allele": {
"@id": "helena:resolver_allele"
},
"resolver_status": {
"@id": "helena:resolver_status",
"@type": "xsd:string"
},
"ClinicalVariantsData": "helena:ClinicalVariantsData",
"unique_variation_total": {
"@id": "helena:unique_variation_total",
"@type": "xsd:integer"
},
"variant_type_counts": {
"@id": "helena:variant_type_counts",
"@container": "@list"
},
"example_selection": {
"@id": "helena:example_selection",
"@type": "xsd:string"
},
"CodingSegment": "helena:CodingSegment",
"rank": {
"@id": "helena:rank",
"@type": "xsd:integer"
},
"phase": {
"@id": "helena:phase",
"@type": "xsd:integer"
},
"ConstraintData": "helena:ConstraintData",
"ConstraintMetric": "helena:ConstraintMetric",
"source_gene_id": {
"@id": "helena:source_gene_id"
},
"source_gene_namespace": {
"@id": "helena:source_gene_namespace"
},
"source_canonical": {
"@id": "helena:source_canonical"
},
"source_mane_select": {
"@id": "helena:source_mane_select"
},
"selection_rule": {
"@id": "helena:selection_rule",
"@type": "xsd:string"
},
"oe_lof": {
"@id": "helena:oe_lof"
},
"oe_lof_lower": {
"@id": "helena:oe_lof_lower"
},
"oe_lof_upper": {
"@id": "helena:oe_lof_upper"
},
"observed_lof": {
"@id": "helena:observed_lof"
},
"oe_missense": {
"@id": "helena:oe_missense"
},
"oe_missense_lower": {
"@id": "helena:oe_missense_lower"
},
"oe_missense_upper": {
"@id": "helena:oe_missense_upper"
},
"observed_missense": {
"@id": "helena:observed_missense"
},
"expected_lof": {
"@id": "helena:expected_lof"
},
"missense_z": {
"@id": "helena:missense_z"
},
"quality_flags": {
"@id": "helena:quality_flags",
"@container": "@list"
},
"expected_synonymous": {
"@id": "helena:expected_synonymous"
},
"expected_missense": {
"@id": "helena:expected_missense"
},
"display_status": {
"@id": "helena:display_status",
"@type": "xsd:string"
},
"gene_flags": {
"@id": "helena:gene_flags",
"@container": "@list"
},
"constraint_flags": {
"@id": "helena:constraint_flags",
"@container": "@list"
},
"reported_metrics": {
"@id": "helena:reported_metrics"
},
"ConversionMetadataSchema": "helena:ConversionMetadataSchema",
"start_time": {
"@id": "helena:start_time"
},
"elapsed_seconds": {
"@id": "helena:elapsed_seconds"
},
"elapsed_human": {
"@id": "helena:elapsed_human"
},
"successful_chromosomes": {
"@id": "helena:successful_chromosomes"
},
"failed_chromosomes": {
"@id": "helena:failed_chromosomes"
},
"CreateFamilyFromJointVcfRequest": "helena:CreateFamilyFromJointVcfRequest",
"vcf_file_path": {
"@id": "helena:vcf_file_path",
"@type": "xsd:string"
},
"family_name": {
"@id": "helena:family_name"
},
"family_notes": {
"@id": "helena:family_notes"
},
"inheritance_hypothesis": {
"@id": "helena:inheritance_hypothesis"
},
"sample_role_mapping": {
"@id": "helena:sample_role_mapping",
"@container": "@list"
},
"staging_session_id": {
"@id": "helena:staging_session_id"
},
"filtering_preset": {
"@id": "helena:filtering_preset",
"@type": "xsd:string"
},
"CreateFamilyFromSeparateVcfsRequest": "helena:CreateFamilyFromSeparateVcfsRequest",
"members": {
"@id": "helena:members",
"@container": "@list"
},
"CreateNoteRequest": "helena:CreateNoteRequest",
"text": {
"@id": "helena:text",
"@type": "xsd:string"
},
"CreateOverrideRequest": "helena:CreateOverrideRequest",
"new_class": {
"@id": "helena:new_class",
"@type": "xsd:string"
},
"pipeline_class": {
"@id": "helena:pipeline_class",
"@type": "xsd:string"
},
"reason": {
"@id": "helena:reason",
"@type": "xsd:string"
},
"CurationResponse": "helena:CurationResponse",
"curation_fields": {
"@id": "helena:curation_fields",
"@type": "@id"
},
"curation_state": {
"@id": "helena:curation_state",
"@type": "@id"
},
"effective_classification": {
"@id": "helena:effective_classification",
"@type": "@id"
},
"curated_by": {
"@id": "helena:curated_by"
},
"audit_event_id": {
"@id": "helena:audit_event_id"
},
"validation_warnings": {
"@id": "helena:validation_warnings",
"@container": "@list"
},
"CurationStateResponse": "helena:CurationStateResponse",
"has_curated_flags": {
"@id": "helena:has_curated_flags"
},
"strength_enums": {
"@id": "helena:strength_enums"
},
"pp1_disqualified": {
"@id": "helena:pp1_disqualified",
"@type": "xsd:boolean"
},
"curated_contributed": {
"@id": "helena:curated_contributed",
"@type": "xsd:boolean"
},
"emitted_curated_criteria": {
"@id": "helena:emitted_curated_criteria",
"@container": "@list"
},
"CytobandBand": "helena:CytobandBand",
"start_pos": {
"@id": "helena:start_pos",
"@type": "xsd:integer"
},
"end_pos": {
"@id": "helena:end_pos",
"@type": "xsd:integer"
},
"band_name": {
"@id": "helena:band_name"
},
"gie_stain": {
"@id": "helena:gie_stain"
},
"arm": {
"@id": "helena:arm"
},
"CytobandResponse": "helena:CytobandResponse",
"coord_system": {
"@id": "helena:coord_system",
"@type": "xsd:string"
},
"bands": {
"@id": "helena:bands",
"@container": "@list"
},
"DatabaseDetailResponse": "helena:DatabaseDetailResponse",
"display_name": {
"@id": "helena:display_name",
"@type": "xsd:string"
},
"description": {
"@id": "helena:description"
},
"priority": {
"@id": "helena:priority",
"@type": "xsd:integer"
},
"enabled": {
"@id": "helena:enabled",
"@type": "xsd:boolean"
},
"license_required": {
"@id": "helena:license_required",
"@type": "xsd:boolean"
},
"vep_required": {
"@id": "helena:vep_required",
"@type": "xsd:boolean"
},
"source": {
"@id": "helena:source",
"@type": "@id"
},
"parquet": {
"@id": "helena:parquet",
"@type": "@id"
},
"freshness": {
"@id": "helena:freshness",
"@type": "@id"
},
"validation": {
"@id": "helena:validation",
"@type": "@id"
},
"detail": {
"@id": "helena:detail"
},
"DatabaseStatusSchema": "helena:DatabaseStatusSchema",
"DeleteBackupResponse": "helena:DeleteBackupResponse",
"deleted": {
"@id": "helena:deleted",
"@type": "xsd:boolean"
},
"DiscordanceRequest": "helena:DiscordanceRequest",
"checks": {
"@id": "helena:checks"
},
"max_results_per_check": {
"@id": "helena:max_results_per_check",
"@type": "xsd:integer"
},
"DiscordanceResponse": "helena:DiscordanceResponse",
"classifier_version_current": {
"@id": "helena:classifier_version_current",
"@type": "xsd:string"
},
"classifier_version_data": {
"@id": "helena:classifier_version_data",
"@type": "xsd:string"
},
"total_variants_analyzed": {
"@id": "helena:total_variants_analyzed",
"@type": "xsd:integer"
},
"total_discordances": {
"@id": "helena:total_discordances",
"@type": "xsd:integer"
},
"summary": {
"@id": "helena:summary"
},
"format_warnings": {
"@id": "helena:format_warnings",
"@container": "@list"
},
"DiscordanceVariantResponse": "helena:DiscordanceVariantResponse",
"acmg_criteria": {
"@id": "helena:acmg_criteria"
},
"severity": {
"@id": "helena:severity",
"@type": "xsd:string"
},
"extra": {
"@id": "helena:extra"
},
"DiscoveryRecord": "helena:DiscoveryRecord",
"work_id": {
"@id": "helena:work_id",
"@type": "xsd:string"
},
"pmid": {
"@id": "helena:pmid"
},
"title": {
"@id": "helena:title",
"@type": "xsd:string"
},
"journal": {
"@id": "helena:journal"
},
"publication_date": {
"@id": "helena:publication_date"
},
"doi": {
"@id": "helena:doi"
},
"rank_score": {
"@id": "helena:rank_score",
"@type": "xsd:decimal"
},
"relation": {
"@id": "helena:relation",
"@type": "xsd:string"
},
"DiseaseAssertion": "helena:DiseaseAssertion",
"assertion_id": {
"@id": "helena:assertion_id",
"@type": "xsd:string"
},
"disease_id": {
"@id": "helena:disease_id",
"@type": "xsd:string"
},
"inheritance": {
"@id": "helena:inheritance"
},
"curation_date": {
"@id": "helena:curation_date"
},
"panel": {
"@id": "helena:panel"
},
"criteria_version": {
"@id": "helena:criteria_version"
},
"report_url": {
"@id": "helena:report_url",
"@type": "xsd:string"
},
"mechanism": {
"@id": "helena:mechanism"
},
"allelic_requirement": {
"@id": "helena:allelic_requirement"
},
"mirrored_assertion_id": {
"@id": "helena:mirrored_assertion_id"
},
"original_disease_id": {
"@id": "helena:original_disease_id"
},
"submitter": {
"@id": "helena:submitter"
},
"mechanism_support": {
"@id": "helena:mechanism_support"
},
"variant_consequence": {
"@id": "helena:variant_consequence"
},
"pmids": {
"@id": "helena:pmids",
"@container": "@list"
},
"DiseaseContextRequest": "helena:DiseaseContextRequest",
"rows": {
"@id": "helena:rows",
"@container": "@list"
},
"DiseaseContextRow": "helena:DiseaseContextRow",
"phenotype_terms": {
"@id": "helena:phenotype_terms",
"@container": "@list"
},
"DiseaseData": "helena:DiseaseData",
"DiseaseRequest": "helena:DiseaseRequest",
"offset": {
"@id": "helena:offset",
"@type": "xsd:integer"
},
"disease": {
"@id": "helena:disease",
"@type": "xsd:string"
},
"DistributionBin": "helena:DistributionBin",
"count": {
"@id": "helena:count",
"@type": "xsd:integer"
},
"DosageAssertion": "helena:DosageAssertion",
"evaluated_at": {
"@id": "helena:evaluated_at"
},
"DosageData": "helena:DosageData",
"EffectiveClassificationResponse": "helena:EffectiveClassificationResponse",
"pipeline_acmg_class": {
"@id": "helena:pipeline_acmg_class",
"@type": "xsd:string"
},
"pipeline_criteria": {
"@id": "helena:pipeline_criteria",
"@type": "xsd:string"
},
"evaluator_acmg_class": {
"@id": "helena:evaluator_acmg_class"
},
"evaluator_criteria": {
"@id": "helena:evaluator_criteria",
"@type": "xsd:string"
},
"cat_m_messages": {
"@id": "helena:cat_m_messages",
"@container": "@list"
},
"Exon": "helena:Exon",
"ExpressionData": "helena:ExpressionData",
"ExpressionRecord": "helena:ExpressionRecord",
"ensembl_gene_id": {
"@id": "helena:ensembl_gene_id",
"@type": "xsd:string"
},
"tissue_id": {
"@id": "helena:tissue_id",
"@type": "xsd:string"
},
"tissue_label": {
"@id": "helena:tissue_label",
"@type": "xsd:string"
},
"median_tpm": {
"@id": "helena:median_tpm"
},
"unit": {
"@id": "helena:unit",
"@type": "xsd:string"
},
"statistic": {
"@id": "helena:statistic",
"@type": "xsd:string"
},
"sample_count": {
"@id": "helena:sample_count"
},
"category_type": {
"@id": "helena:category_type",
"@type": "xsd:string"
},
"FamilyFromJointVcfResponse": "helena:FamilyFromJointVcfResponse",
"family": {
"@id": "helena:family",
"@type": "@id"
},
"session_ids": {
"@id": "helena:session_ids",
"@container": "@list"
},
"FamilyPublicResponse": "helena:FamilyPublicResponse",
"id": {
"@id": "helena:id",
"@type": "xsd:string"
},
"created_by": {
"@id": "helena:created_by",
"@type": "xsd:string"
},
"organization_id": {
"@id": "helena:organization_id",
"@type": "xsd:string"
},
"notes": {
"@id": "helena:notes"
},
"updated_at": {
"@id": "helena:updated_at"
},
"FlagVariantRequest": "helena:FlagVariantRequest",
"comment": {
"@id": "helena:comment",
"@type": "xsd:string"
},
"FlagVariantResponse": "helena:FlagVariantResponse",
"email_sent": {
"@id": "helena:email_sent",
"@type": "xsd:boolean"
},
"message": {
"@id": "helena:message",
"@type": "xsd:string"
},
"Freshness": "helena:Freshness",
"last_source_check": {
"@id": "helena:last_source_check"
},
"stale": {
"@id": "helena:stale",
"@type": "xsd:boolean"
},
"stale_reason": {
"@id": "helena:stale_reason"
},
"FreshnessSchema": "helena:FreshnessSchema",
"source_age_days": {
"@id": "helena:source_age_days"
},
"parquet_age_days": {
"@id": "helena:parquet_age_days"
},
"cache_ttl_days": {
"@id": "helena:cache_ttl_days"
},
"is_within_ttl": {
"@id": "helena:is_within_ttl"
},
"suggested_action": {
"@id": "helena:suggested_action"
},
"GeneAggregated": "helena:GeneAggregated",
"variant_count": {
"@id": "helena:variant_count",
"@type": "xsd:integer"
},
"best_acmg_class": {
"@id": "helena:best_acmg_class"
},
"best_acmg_priority": {
"@id": "helena:best_acmg_priority",
"@type": "xsd:integer"
},
"best_impact": {
"@id": "helena:best_impact"
},
"best_priority_score": {
"@id": "helena:best_priority_score"
},
"pathogenic_count": {
"@id": "helena:pathogenic_count",
"@type": "xsd:integer"
},
"likely_pathogenic_count": {
"@id": "helena:likely_pathogenic_count",
"@type": "xsd:integer"
},
"vus_count": {
"@id": "helena:vus_count",
"@type": "xsd:integer"
},
"likely_benign_count": {
"@id": "helena:likely_benign_count"
# --- truncated at 32 KB (47 KB total) ---
# Full source: https://artifacts.apis.io/helena-bio/json-ld/helena-bio-context.jsonld