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gene

get/gene

Query parameters

idstring[] required

Gene ENSEMBL id

Response

successful operation

idstring
symbolstring
pLInumber

can be obtained from gnomAD gene constraint table

pResnumber

can be obtained from gnomAD gene constraint table

OMIMstring[]

Example response

[
  {
    "variants": [
      {
        "hgvs": "such as ENST12345:c.100A>C:p.34M>P"
      }
    ],
    "HPO": {
      "patients": {
        "cohort": "awesome",
        "contact": "awesome@fantastic.com",
        "variants": {
          "homozygous": [
            {
              "hgvs": "such as ENST12345:c.100A>C:p.34M>P"
            }
          ],
          "heterozygous": [
            {
              "hgvs": "such as ENST12345:c.100A>C:p.34M>P"
            }
          ]
        }
      }
    }
  }
]

Changes