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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
NameRequiredDescriptionDefault
datasetYes
reference_genomeYes
variant_idYes

Implementation Reference

  • 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)

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