get_clinvar_variant_info
Retrieve ClinVar variant information from gnomAD datasets to access clinical significance data for genetic variants.
Instructions
[gnomAD API] Retrieve ClinVar variant info (v2/v3/v4) Args: dataset (str): gnomAD dataset ID (gnomad_r4/gnomad_r3/gnomad_r2_1) reference_genome (str): Reference genome (GRCh37 or GRCh38) variant_id (str): Variant ID Returns: dict: ClinVar info
Input Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| dataset | Yes | ||
| reference_genome | Yes | ||
| variant_id | Yes |
Output Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
No arguments | |||
Implementation Reference
- server.py:124-144 (handler)The `get_clinvar_variant_info` tool handler, implemented in `server.py` using the FastMCP decorator. It queries the `clinvar_variant` metadata via `run_query_with_metadata`.
def get_clinvar_variant_info( dataset: str, reference_genome: str, variant_id: str ) -> dict: """ [gnomAD API] Retrieve ClinVar variant info (v2/v3/v4) Args: dataset (str): gnomAD dataset ID (gnomad_r4/gnomad_r3/gnomad_r2_1) reference_genome (str): Reference genome (GRCh37 or GRCh38) variant_id (str): Variant ID Returns: dict: ClinVar info """ variables = { 'dataset': dataset, 'reference_genome': reference_genome, 'variant_id': variant_id, } return run_query_with_metadata('clinvar_variant', variables)