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get_gene_info

Retrieve gene information from the gnomAD database using Ensembl gene IDs or symbols to access genomic metadata and annotations.

Instructions

[gnomAD API] Retrieve gene information (v4 only) Args: gene_id (str, optional): Ensembl gene ID (e.g. ENSG00000139618) gene_symbol (str, optional): Gene symbol (e.g. PCSK9) Returns: dict: gene info Note: Not supported in v2/v3. Use search_for_genes instead.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
gene_idNo
gene_symbolNo
datasetNognomad_r4
reference_genomeNoGRCh38

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault

No arguments

Implementation Reference

  • server.py:8-39 (handler)
    The get_gene_info tool implementation in server.py, which acts as an MCP tool to fetch gene information from gnomAD.
    @mcp.tool()
    def get_gene_info(
        gene_id: Optional[str] = None,
        gene_symbol: Optional[str] = None,
        dataset: str = 'gnomad_r4',
        reference_genome: str = 'GRCh38'
    ) -> dict:
        """
        [gnomAD API] Retrieve gene information (v4 only)
        Args:
            gene_id (str, optional): Ensembl gene ID (e.g. ENSG00000139618)
            gene_symbol (str, optional): Gene symbol (e.g. PCSK9)
        Returns:
            dict: gene info
        Note:
            Not supported in v2/v3. Use search_for_genes instead.
        """
    
        if dataset != 'gnomad_r4':
            raise ValueError("Only v4 is supported for gene info.")
        if reference_genome != 'GRCh38':
            raise ValueError("Only GRCh38 is supported for gene info.")
    
        if not gene_id and not gene_symbol:
            raise ValueError("Either gene_id or gene_symbol must be provided.")
        variables = {
            'dataset': dataset,
            'reference_genome': reference_genome,
            'gene_id': gene_id,
            'gene_symbol': gene_symbol,
        }
        return run_query_with_metadata('gene', variables)
Behavior2/5

Does the description disclose side effects, auth requirements, rate limits, or destructive behavior?

No annotations are provided, so the description carries the full burden. It mentions version constraints (v4 only) and an alternative tool, but lacks critical behavioral details: authentication requirements, rate limits, error handling, pagination, or what specific 'gene info' includes. The description doesn't contradict annotations (none provided), but is insufficient for a tool with 4 parameters and no annotation coverage.

Agents need to know what a tool does to the world before calling it. Descriptions should go beyond structured annotations to explain consequences.

Conciseness4/5

Is the description appropriately sized, front-loaded, and free of redundancy?

The description is well-structured with clear sections (Args, Returns, Note) and front-loaded the core purpose. It's concise with no wasted sentences, though the parameter documentation could be more efficiently integrated rather than listed separately.

Shorter descriptions cost fewer tokens and are easier for agents to parse. Every sentence should earn its place.

Completeness3/5

Given the tool's complexity, does the description cover enough for an agent to succeed on first attempt?

Given 4 parameters with 0% schema coverage and no annotations, the description is moderately complete: it covers the tool's purpose, version constraints, and two parameters. However, it lacks details on the other two parameters, behavioral traits, and while an output schema exists, the description doesn't hint at the structure of returned 'gene info'. For a retrieval tool with sibling alternatives, more guidance would be helpful.

Complex tools with many parameters or behaviors need more documentation. Simple tools need less. This dimension scales expectations accordingly.

Parameters2/5

Does the description clarify parameter syntax, constraints, interactions, or defaults beyond what the schema provides?

Schema description coverage is 0%, so the description must compensate. It only documents 2 of 4 parameters (gene_id, gene_symbol) with examples, but omits 'dataset' and 'reference_genome' entirely. The description adds some value with examples for the two gene parameters, but fails to cover half the parameters, leaving significant gaps.

Input schemas describe structure but not intent. Descriptions should explain non-obvious parameter relationships and valid value ranges.

Purpose4/5

Does the description clearly state what the tool does and how it differs from similar tools?

The description clearly states the tool's purpose: 'Retrieve gene information (v4 only)'. It specifies the verb ('Retrieve') and resource ('gene information'), and distinguishes it from v2/v3 versions. However, it doesn't explicitly differentiate from sibling tools like 'search_for_genes' beyond version compatibility.

Agents choose between tools based on descriptions. A clear purpose with a specific verb and resource helps agents select the right tool.

Usage Guidelines4/5

Does the description explain when to use this tool, when not to, or what alternatives exist?

The description provides clear context on when to use this tool: 'v4 only' and 'Not supported in v2/v3. Use search_for_genes instead.' It explicitly names an alternative tool for other versions. However, it doesn't specify when to use this vs. other sibling tools like 'get_region_info' or clarify if both gene_id and gene_symbol can be provided simultaneously.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

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