Variation
variation"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.
Example tool call
This call uses example arguments supplied in the tool’s input schema.
{
"id": 1,
"jsonrpc": "2.0",
"method": "tools/call",
"params": {
"arguments": {
"species": "human",
"variant_id": "rs56116432"
},
"name": "variation"
}
}Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| species | Yes | ||
| assembly | No | Human genome build: "GRCh38" (the default) or "GRCh37" (= hg19). Coordinates you pass and coordinates you get back are both in this build. Older variant lists, spreadsheets and published tables are usually GRCh37. | |
| variant_id | Yes | e.g. "rs56116432" |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| id | No | Ensembl variation ID | |
| end | No | End coordinate | |
| name | No | Variant name/ID | |
| class | No | Variant class (SNP, indel, etc) | |
| start | No | Start coordinate | |
| strand | No | Strand | |
| alleles | No | Alleles | |
| seq_region_name | No | Chromosome | |
| ancestral_allele | No | Ancestral allele |