Life Sciences · Example Payload

Gene Example

Tumor suppressor gene whose protein product participates in DNA damage response and homologous recombination repair; germline pathogenic variants confer hereditary breast and ovarian cancer susceptibility.

Life SciencesBiotechnologyPharmaHealthcareClinical TrialsDrug InformationGenomicsBioinformaticsElectronic Health RecordsFHIRLab Informatics

Gene Example is an example object payload from Life Sciences, with 14 top-level fields. It illustrates the shape of data this provider's APIs accept or return.

Top-level fields

hgncSymbolhgncIdensemblIdncbiGeneIdnamealiasesorganismchromosomelocationbiotypedescriptiontranscriptsphenotypescrossReferences

Example Payload

{
  "hgncSymbol": "BRCA1",
  "hgncId": "HGNC:1100",
  "ensemblId": "ENSG00000012048",
  "ncbiGeneId": "672",
  "name": "BRCA1 DNA repair associated",
  "aliases": ["RNF53", "BRCC1", "PPP1R53", "FANCS"],
  "organism": {
    "scientificName": "Homo sapiens",
    "taxonomyId": 9606
  },
  "chromosome": "17",
  "location": {
    "assembly": "GRCh38",
    "chromosome": "17",
    "start": 43044295,
    "end": 43125483,
    "strand": "-"
  },
  "biotype": "protein_coding",
  "description": "Tumor suppressor gene whose protein product participates in DNA damage response and homologous recombination repair; germline pathogenic variants confer hereditary breast and ovarian cancer susceptibility.",
  "transcripts": [
    {
      "id": "ENST00000357654",
      "biotype": "protein_coding",
      "isCanonical": true
    },
    {
      "id": "ENST00000471181",
      "biotype": "protein_coding",
      "isCanonical": false
    }
  ],
  "phenotypes": [
    {
      "name": "Hereditary breast and ovarian cancer syndrome",
      "source": "MONDO",
      "identifier": "MONDO:0011450"
    },
    {
      "name": "Breast-ovarian cancer, familial, susceptibility to, 1",
      "source": "OMIM",
      "identifier": "OMIM:604370"
    }
  ],
  "crossReferences": {
    "uniprot": ["P38398"],
    "omim": "113705",
    "refseq": ["NM_007294", "NM_007297", "NM_007298"]
  }
}

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