`variant`

Pack: gnomad · Endpoint: https://gateway.pipeworx.io/gnomad/mcp

Variant by chr-pos-ref-alt (e.g. “1-55051215-G-A”) or rsid.

Parameters

Name	Type	Required	Description
`variant_id`	string	yes
`dataset`	string	no	Default ${DEFAULT_DATASET}.

Example call

Arguments

{
  "variant_id": "1-55051215-G-A"
}

curl

curl -X POST https://gateway.pipeworx.io/gnomad/mcp \
  -H 'Content-Type: application/json' \
  -d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"name":"variant","arguments":{"variant_id":"1-55051215-G-A"}}}'

TypeScript (@pipeworx/sdk)

import { Pipeworx } from '@pipeworx/sdk';
const pipeworx = new Pipeworx();

const result = await pipeworx.call('variant', {
  "variant_id": "1-55051215-G-A"
});

More examples

{
  "variant_id": "rs1801133",
  "dataset": "gnomad_r4"
}

Response shape

Field	Type	Description
`variant`	object

Full JSON Schema

{
  "type": "object",
  "properties": {
    "variant": {
      "type": "object",
      "properties": {
        "variant_id": {
          "type": "string",
          "description": "Variant identifier (chr-pos-ref-alt format)"
        },
        "rsids": {
          "type": [
            "array",
            "null"
          ],
          "description": "rsID identifiers"
        },
        "reference_genome": {
          "type": "string",
          "description": "Reference genome version"
        },
        "chrom": {
          "type": "string",
          "description": "Chromosome"
        },
        "pos": {
          "type": "number",
          "description": "Genomic position"
        },
        "ref": {
          "type": "string",
          "description": "Reference allele"
        },
        "alt": {
          "type": "string",
          "description": "Alternate allele"
        },
        "exome": {
          "type": "object",
          "properties": {
            "ac": {
              "type": "number",
              "description": "Allele count"
            },
            "an": {
              "type": "number",
              "description": "Allele number"
            },
            "af": {
              "type": "number",
              "description": "Allele frequency"
            },
            "homozygote_count": {
              "type": "number",
              "description": "Count of homozygotes"
            },
            "populations": {
              "type": "array",
              "items": {
                "type": "object",
                "properties": {
                  "id": {
                    "type": "string",
                    "description": "Population identifier"
                  },
                  "ac": {
                    "type": "number",
                    "description": "Population allele count"
                  },
                  "an": {
                    "type": "number",
                    "description": "Population allele number"
                  },
                  "af": {
                    "type": "number",
                    "description": "Population allele frequency"
                  }
                }
              }
            }
          }
        },
        "genome": {
          "type": "object",
          "properties": {
            "ac": {
              "type": "number",
              "description": "Allele count"
            },
            "an": {
              "type": "number",
              "description": "Allele number"
            },
            "af": {
              "type": "number",
              "description": "Allele frequency"
            },
            "homozygote_count": {
              "type": "number",
              "description": "Count of homozygotes"
            },
            "populations": {
              "type": "array",
              "items": {
                "type": "object",
                "properties": {
                  "id": {
                    "type": "string",
                    "description": "Population identifier"
                  },
                  "ac": {
                    "type": "number",
                    "description": "Population allele count"
                  },
                  "an": {
                    "type": "number",
                    "description": "Population allele number"
                  },
                  "af": {
                    "type": "number",
                    "description": "Population allele frequency"
                  }
                }
              }
            }
          }
        },
        "transcript_consequences": {
          "type": "array",
          "items": {
            "type": "object",
            "properties": {
              "gene_symbol": {
                "type": "string",
                "description": "Gene symbol"
              },
              "gene_id": {
                "type": "string",
                "description": "Ensembl gene ID"
              },
              "transcript_id": {
                "type": "string",
                "description": "Ensembl transcript ID"
              },
              "consequence_terms": {
                "type": "array",
                "items": {
                  "type": "string"
                },
                "description": "VEP consequence terms"
              },
              "is_canonical": {
                "type": "boolean",
                "description": "Whether transcript is canonical"
              },
              "hgvsc": {
                "type": "string",
                "description": "HGVS cDNA notation"
              },
              "hgvsp": {
                "type": "string",
                "description": "HGVS protein notation"
              }
            }
          }
        },
        "clinvar": {
          "type": "object",
          "properties": {
            "clinical_significance": {
              "type": "string",
              "description": "ClinVar clinical significance"
            },
            "gold_stars": {
              "type": "number",
              "description": "ClinVar review status stars"
            },
            "submissions": {
              "type": "array",
              "items": {
                "type": "object",
                "properties": {
                  "clinical_significance": {
                    "type": "string",
                    "description": "Submission clinical significance"
                  },
                  "review_status": {
                    "type": "string",
                    "description": "Submission review status"
                  }
                }
              }
            }
          }
        }
      }
    }
  }
}

Connect

Add this to your MCP client config, or use one-click install buttons:

{
  "mcpServers": {
    "gnomad": {
      "url": "https://gateway.pipeworx.io/gnomad/mcp"
    }
  }
}

See Getting Started for client-specific install steps.

variant