biothings_query_variants
Search for variants using Lucene queries, such as rsID, gene names, or genomic intervals, and retrieve detailed annotations and query metadata from MyVariant.info.
Instructions
Search variants via Lucene query (e.g., rsID, gene name), returning variant details and query metadata.
Search for variants using a query string with various filtering options, leveraging the MyVariant.info API.
**Use this tool for *searching* variants based on criteria.**
If you already know the exact variant ID (HGVS, rsID), use the `get_variant` tool for faster direct retrieval.
**Supported Query Features (Lucene syntax):**
1. Simple Queries: `q=rs58991260` (Find by rsID)
2. Fielded Queries: `q=dbsnp.vartype:snp`, `q=dbnsfp.polyphen2.hdiv.pred:(D P)`
3. Range Queries: `q=dbnsfp.polyphen2.hdiv.score:>0.99`
4. Wildcard Queries: `q=dbnsfp.genename:CDK*`
5. Boolean Queries: `q=_exists_:dbsnp AND dbsnp.vartype:snp`
6. Genomic Interval Queries: `q=chr1:69000-70000`
Input Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| q | Yes | ||
| size | No | ||
| skip | No | ||
| sort | No | ||
| No | |||
| fields | No | all |
Output Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| hits | Yes | ||
| took | No | ||
| total | No | ||
| max_score | No |