`region`

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

Variants in a genomic region (≤25kb recommended). You MUST say which genome build your start/stop are in via assembly — there is no default, because a position is valid in both builds and a wrong guess returns real variants from the wrong locus rather than an error.

Parameters

Name	Type	Required	Description
`chrom`	string	yes	e.g. “1”, “X”, “MT”
`start`	number	yes
`stop`	number	yes
`assembly`	string	yes
`dataset`	string	no	Default ${DEFAULT_DATASET} (GRCh38). gnomad_r2_1* and exac are GRCh37.

Example call

Arguments

{
  "chrom": "1",
  "start": 55000000,
  "stop": 55025000,
  "assembly": "GRCh38"
}

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":"region","arguments":{"chrom":"1","start":55000000,"stop":55025000,"assembly":"GRCh38"}}}'

TypeScript (@pipeworx/sdk)

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

const result = await pipeworx.call('region', {
  "chrom": "1",
  "start": 55000000,
  "stop": 55025000,
  "assembly": "GRCh38"
});

More examples

{
  "chrom": "1",
  "start": 11856300,
  "stop": 11856500,
  "assembly": "GRCh37",
  "dataset": "gnomad_r2_1"
}

Response shape

Field	Type	Description
`region`	object

Full JSON Schema

{
  "type": "object",
  "properties": {
    "region": {
      "type": "object",
      "properties": {
        "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"
              },
              "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.

region