variation

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

“What is [rsID]” / “look up SNP [rs…]” / “variant info for [rsN]” — fetch a genetic variation record by ID (e.g. rs56116432). Returns alleles, genomic location, clinical significance, gene mappings. Use for SNP lookups, pharmacogenomics, GWAS follow-up.

Parameters

NameTypeRequiredDescription
speciesstringyes
variant_idstringyese.g. “rs56116432”

Example call

Arguments

{
  "species": "human",
  "variant_id": "rs56116432"
}

curl

curl -X POST https://gateway.pipeworx.io/ensembl/mcp \
  -H 'Content-Type: application/json' \
  -d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"name":"variation","arguments":{"species":"human","variant_id":"rs56116432"}}}'

TypeScript (@pipeworx/sdk)

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

const result = await pipeworx.call('variation', {
  "species": "human",
  "variant_id": "rs56116432"
});

Response shape

FieldTypeDescription
namestringVariant name/ID
idstringEnsembl variation ID
startintegerStart coordinate
endintegerEnd coordinate
seq_region_namestringChromosome
strandintegerStrand
classstringVariant class (SNP, indel, etc)
ancestral_allelestringAncestral allele
allelesarrayAlleles
Full JSON Schema
{
  "type": "object",
  "description": "Variation record by variant ID",
  "properties": {
    "name": {
      "type": "string",
      "description": "Variant name/ID"
    },
    "id": {
      "type": "string",
      "description": "Ensembl variation ID"
    },
    "start": {
      "type": "integer",
      "description": "Start coordinate"
    },
    "end": {
      "type": "integer",
      "description": "End coordinate"
    },
    "seq_region_name": {
      "type": "string",
      "description": "Chromosome"
    },
    "strand": {
      "type": "integer",
      "description": "Strand"
    },
    "class": {
      "type": "string",
      "description": "Variant class (SNP, indel, etc)"
    },
    "ancestral_allele": {
      "type": "string",
      "description": "Ancestral allele"
    },
    "alleles": {
      "type": "array",
      "description": "Alleles",
      "items": {
        "type": "object",
        "properties": {
          "allele": {
            "type": "string",
            "description": "Allele sequence"
          },
          "frequency": {
            "type": "number",
            "description": "Allele frequency"
          }
        }
      }
    }
  }
}

Connect

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

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

See Getting Started for client-specific install steps.

Regenerated from source · build July 6, 2026