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get_str_info

Retrieve short tandem repeat (STR) information from the gnomAD v4 database using a reference genome and STR identifier to analyze genetic variations.

Instructions

[gnomAD API] Retrieve STR info (v4 only) Args: reference_genome (str): Reference genome (GRCh38) id (str): STR ID (e.g. ATXN1) Returns: dict: STR info Note: Not supported in v2/v3.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
reference_genomeYes
idYes
datasetNognomad_r4

Implementation Reference

  • The handler function `get_str_info` implements the tool logic for retrieving short tandem repeat information. It validates the dataset version and uses `run_query_with_metadata` to execute the query.
    def get_str_info(
        reference_genome: str,
        id: str,
        dataset: str = 'gnomad_r4'
    ) -> dict:
        """
        [gnomAD API] Retrieve STR info (v4 only)
        Args:
            reference_genome (str): Reference genome (GRCh38)
            id (str): STR ID (e.g. ATXN1)
        Returns:
            dict: STR info
        Note:
            Not supported in v2/v3.
        """
    
        if dataset != 'gnomad_r4':
            raise ValueError("Only v4 is supported for STR info.")
    
        variables = {
            'dataset': dataset,
            'reference_genome': reference_genome,
            'id': id,
        }
        return run_query_with_metadata('short_tandem_repeat', variables)

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