`gene`

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

Gene info + variants. Accepts gene symbol (e.g. “BRCA1”) or Ensembl gene id.

Parameters

Name	Type	Required	Description
`gene_symbol_or_id`	string	yes
`dataset`	string	no

Example call

Arguments

{
  "gene_symbol_or_id": "BRCA1"
}

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":"gene","arguments":{"gene_symbol_or_id":"BRCA1"}}}'

TypeScript (@pipeworx/sdk)

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

const result = await pipeworx.call('gene', {
  "gene_symbol_or_id": "BRCA1"
});

More examples

{
  "gene_symbol_or_id": "ENSG00000139618",
  "dataset": "gnomad_r4"
}

Response shape

Field	Type	Description
`gene_search`	array	Gene search results
`gene`	object

Full JSON Schema

{
  "type": "object",
  "properties": {
    "gene_search": {
      "type": "array",
      "items": {
        "type": "object",
        "properties": {
          "ensembl_id": {
            "type": "string",
            "description": "Ensembl gene ID"
          },
          "symbol": {
            "type": "string",
            "description": "Gene symbol"
          }
        }
      },
      "description": "Gene search results"
    },
    "gene": {
      "type": "object",
      "properties": {
        "gene_id": {
          "type": "string",
          "description": "Ensembl gene ID"
        },
        "symbol": {
          "type": "string",
          "description": "Gene symbol"
        },
        "name": {
          "type": "string",
          "description": "Full gene name"
        },
        "chrom": {
          "type": "string",
          "description": "Chromosome"
        },
        "start": {
          "type": "number",
          "description": "Gene start position"
        },
        "stop": {
          "type": "number",
          "description": "Gene stop position"
        },
        "strand": {
          "type": "string",
          "description": "Strand orientation"
        },
        "variants": {
          "type": "array",
          "items": {
            "type": "object",
            "properties": {
              "variant_id": {
                "type": "string",
                "description": "Variant identifier"
              },
              "rsids": {
                "type": [
                  "array",
                  "null"
                ],
                "description": "rsID identifiers"
              },
              "consequence": {
                "type": "string",
                "description": "VEP consequence"
              },
              "hgvsc": {
                "type": "string",
                "description": "HGVS cDNA notation"
              },
              "hgvsp": {
                "type": "string",
                "description": "HGVS protein notation"
              },
              "exome": {
                "type": "object",
                "properties": {
                  "ac": {
                    "type": "number",
                    "description": "Allele count"
                  },
                  "an": {
                    "type": "number",
                    "description": "Allele number"
                  },
                  "af": {
                    "type": "number",
                    "description": "Allele frequency"
                  }
                }
              },
              "genome": {
                "type": "object",
                "properties": {
                  "ac": {
                    "type": "number",
                    "description": "Allele count"
                  },
                  "an": {
                    "type": "number",
                    "description": "Allele number"
                  },
                  "af": {
                    "type": "number",
                    "description": "Allele frequency"
                  }
                }
              }
            }
          }
        }
      }
    }
  }
}

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.

gene