Helena Bioinformatics

Helena Bioinformatics Public Gene Disease API

The public-gene-disease API from Helena Bioinformatics — 3 operation(s) for public-gene-disease.

GitHub OpenAPI

Operations 3

GET /public/v1/gene-disease/ready Ready #
POST /public/v1/gene-disease/genes/search Gene Associations #
POST /public/v1/gene-disease/diseases/search Disease Genes #

Specifications

⚙
OpenAPI
https://artifacts.apis.io/helena-bio/openapi/helena-bio-public-gene-disease-api-openapi.yml

Schemas & Data

📊
JSONSchema
https://artifacts.apis.io/helena-bio/json-schema/helena-bio-mtdna-curation-fields-schema.json
📊
JSONSchema
https://artifacts.apis.io/helena-bio/json-schema/helena-bio-section-response-schema.json
📊
JSONSchema
https://artifacts.apis.io/helena-bio/json-schema/helena-bio-clin-var-lite-export-request-schema.json
📊
JSONSchema
https://artifacts.apis.io/helena-bio/json-schema/helena-bio-gene-literature-response-schema.json
📊
JSONSchema
https://artifacts.apis.io/helena-bio/json-schema/helena-bio-reclassification-run-detail-schema-schema.json
📊
JSONSchema
https://artifacts.apis.io/helena-bio/json-schema/helena-bio-vep-cache-stats-response-schema.json

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OpenAPI Specification

helena-bio-public-gene-disease-api-openapi.yml Raw ↑ 
openapi: 3.2.0
info:
  title: Helix Insight - Variant Analysis Service Public Gene…
  description: AI-powered variant analysis and interpretation service
  version: 0.1.0
tags:
- name: public-gene-disease
paths:
  /public/v1/gene-disease/ready:
    get:
      tags:
      - public-gene-disease
      summary: Ready
      operationId: ready_public_v1_gene_disease_ready_get
      responses:
        '200':
          description: Successful Response
          content:
            application/json:
              schema:
                $ref: '#/components/schemas/ReadyResponse'
  /public/v1/gene-disease/genes/search:
    post:
      tags:
      - public-gene-disease
      summary: Gene Associations
      operationId: gene_associations_public_v1_gene_disease_genes_search_post
      requestBody:
        content:
          application/json:
            schema:
              $ref: '#/components/schemas/GeneRequest'
        required: true
      responses:
        '200':
          description: Successful Response
          content:
            application/json:
              schema:
                $ref: '#/components/schemas/GeneDiseaseResponse'
        '422':
          description: Validation Error
          content:
            application/json:
              schema:
                $ref: '#/components/schemas/HTTPValidationError'
  /public/v1/gene-disease/diseases/search:
    post:
      tags:
      - public-gene-disease
      summary: Disease Genes
      operationId: disease_genes_public_v1_gene_disease_diseases_search_post
      requestBody:
        content:
          application/json:
            schema:
              $ref: '#/components/schemas/DiseaseRequest'
        required: true
      responses:
        '200':
          description: Successful Response
          content:
            application/json:
              schema:
                $ref: '#/components/schemas/GeneDiseaseResponse'
        '422':
          description: Validation Error
          content:
            application/json:
              schema:
                $ref: '#/components/schemas/HTTPValidationError'
components:
  schemas:
    variant_analysis_service__presentation__schemas__public_gene_disease_schemas__Source:
      properties:
        name:
          type: string
          const: ClinGen Gene-Disease Validity
          title: Name
        version:
          type: string
          title: Version
        snapshotSha256:
          type: string
          pattern: ^[a-f0-9]{64}$
          title: Snapshotsha256
        downloadUrl:
          type: string
          title: Downloadurl
        license:
          type: string
          const: CC0-1.0
          title: License
        attribution:
          type: string
          title: Attribution
      additionalProperties: false
      type: object
      required:
      - name
      - version
      - snapshotSha256
      - downloadUrl
      - license
      - attribution
      title: Source
    Association:
      properties:
        geneSymbol:
          type: string
          title: Genesymbol
        hgncId:
          anyOf:
          - type: string
          - type: 'null'
          title: Hgncid
        diseaseName:
          type: string
          title: Diseasename
        diseaseId:
          type: string
          title: Diseaseid
        modeOfInheritance:
          type: string
          title: Modeofinheritance
        modeOfInheritanceId:
          anyOf:
          - type: string
          - type: 'null'
          title: Modeofinheritanceid
        classification:
          type: string
          title: Classification
        expertPanel:
          anyOf:
          - type: string
          - type: 'null'
          title: Expertpanel
        reportUrl:
          anyOf:
          - type: string
          - type: 'null'
          title: Reporturl
        classificationDate:
          anyOf:
          - type: string
          - type: 'null'
          title: Classificationdate
        sopVersion:
          anyOf:
          - type: string
          - type: 'null'
          title: Sopversion
      additionalProperties: false
      type: object
      required:
      - geneSymbol
      - hgncId
      - diseaseName
      - diseaseId
      - modeOfInheritance
      - modeOfInheritanceId
      - classification
      - expertPanel
      - reportUrl
      - classificationDate
      - sopVersion
      title: Association
    UsageBoundary:
      properties:
        intended_use:
          type: string
          const: professional_gene_disease_review
          title: Intended Use
        patient_context_evaluated:
          type: boolean
          const: false
          title: Patient Context Evaluated
        review_required:
          type: boolean
          const: true
          title: Review Required
        not_for:
          items:
            type: string
            enum:
            - patient_diagnosis
            - treatment_decision
            - variant_pathogenicity_classification
          type: array
          title: Not For
      additionalProperties: false
      type: object
      required:
      - intended_use
      - patient_context_evaluated
      - review_required
      - not_for
      title: UsageBoundary
    ReadyResponse:
      properties:
        status:
          type: string
          const: ready
          title: Status
        source:
          $ref: '#/components/schemas/variant_analysis_service__presentation__schemas__public_gene_disease_schemas__Source'
      additionalProperties: false
      type: object
      required:
      - status
      - source
      title: ReadyResponse
    DiseaseRequest:
      properties:
        limit:
          type: integer
          maximum: 50.0
          minimum: 1.0
          title: Limit
          default: 20
        offset:
          type: integer
          maximum: 1000.0
          minimum: 0.0
          title: Offset
          default: 0
        disease:
          type: string
          maxLength: 160
          minLength: 3
          title: Disease
      additionalProperties: false
      type: object
      required:
      - disease
      title: DiseaseRequest
    HTTPValidationError:
      properties:
        detail:
          items:
            $ref: '#/components/schemas/ValidationError'
          type: array
          title: Detail
      type: object
      title: HTTPValidationError
    Query:
      properties:
        kind:
          type: string
          enum:
          - gene
          - disease
          title: Kind
        value:
          type: string
          title: Value
        match:
          type: string
          enum:
          - exact
          - name_contains
          title: Match
      additionalProperties: false
      type: object
      required:
      - kind
      - value
      - match
      title: Query
    GeneDiseaseResponse:
      properties:
        contractVersion:
          type: string
          const: '1.0'
          title: Contractversion
        status:
          type: string
          enum:
          - ok
          - not_found
          title: Status
        query:
          $ref: '#/components/schemas/Query'
        associations:
          items:
            $ref: '#/components/schemas/Association'
          type: array
          maxItems: 50
          title: Associations
        pagination:
          $ref: '#/components/schemas/variant_analysis_service__presentation__schemas__public_gene_disease_schemas__Pagination'
        source:
          $ref: '#/components/schemas/variant_analysis_service__presentation__schemas__public_gene_disease_schemas__Source'
        warnings:
          items:
            type: string
          type: array
          title: Warnings
        usage_boundary:
          $ref: '#/components/schemas/UsageBoundary'
      additionalProperties: false
      type: object
      required:
      - contractVersion
      - status
      - query
      - associations
      - pagination
      - source
      - warnings
      - usage_boundary
      title: GeneDiseaseResponse
    GeneRequest:
      properties:
        limit:
          type: integer
          maximum: 50.0
          minimum: 1.0
          title: Limit
          default: 20
        offset:
          type: integer
          maximum: 1000.0
          minimum: 0.0
          title: Offset
          default: 0
        gene:
          type: string
          maxLength: 64
          minLength: 1
          title: Gene
      additionalProperties: false
      type: object
      required:
      - gene
      title: GeneRequest
    variant_analysis_service__presentation__schemas__public_gene_disease_schemas__Pagination:
      properties:
        limit:
          type: integer
          maximum: 50.0
          minimum: 1.0
          title: Limit
        offset:
          type: integer
          maximum: 1000.0
          minimum: 0.0
          title: Offset
        total:
          type: integer
          minimum: 0.0
          title: Total
        nextOffset:
          anyOf:
          - type: integer
            maximum: 1000.0
            minimum: 0.0
          - type: 'null'
          title: Nextoffset
      additionalProperties: false
      type: object
      required:
      - limit
      - offset
      - total
      - nextOffset
      title: Pagination
    ValidationError:
      properties:
        loc:
          items:
            anyOf:
            - type: string
            - type: integer
          type: array
          title: Location
        msg:
          type: string
          title: Message
        type:
          type: string
          title: Error Type
        input:
          title: Input
        ctx:
          type: object
          title: Context
      type: object
      required:
      - loc
      - msg
      - type
      title: ValidationError
  securitySchemes:
    HTTPBearer:
      type: http
      scheme: bearer