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Get Variant Annotation Details

myvariant.variants.info
Read-onlyIdempotent

Retrieve comprehensive annotation for a single genetic variant by its dbSNP rsID (e.g. "rs671") or HGVS genomic notation. Returns complete annotation from 30+ integrated databases: ClinVar clinical significance and disease conditions, CADD pathogenicity scores (raw + PHRED), gnomAD exome and genome allele frequencies across ancestry groups (AFR, EUR, EAS, AMR, ASJ), SnpEff predicted functional consequences with HGVS coding and protein notations, dbSNP allele frequency data, COSMIC somatic mutation records, CIViC clinical interpretations, and genomic coordinates in both GRCh37 (hg19) and GRCh38 (hg38). Essential for variant interpretation pipelines, pharmacogenomics analysis, and clinical variant classification (ACMG guidelines).

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
fieldsNoComma-separated annotation fields to retrieve. Default: dbsnp,clinvar,cadd,gnomad_exome,gnomad_genome,snpeff,vcf,chrom,hg19. Optional: dbnsfp (functional predictions), cosmic (somatic), civic (clinical), gwassnps (GWAS associations), hg38 (GRCh38 coordinates). Use "all" for complete annotation.
variant_idYesVariant identifier — dbSNP rsID (e.g. "rs58991260"), or HGVS genomic notation (e.g. "chr7:g.140453134A>T" — use URL-encoded form when needed). rsIDs are preferred as they are stable across assemblies. Obtain IDs from myvariant.search results.

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
errorNoPresent only when the call failed. Includes error code, message, request_id, and any provider-specific extras.
resultNoTool response payload. Shape varies per tool — consult the tool description and inputSchema. May be an object, array, string, or number depending on the upstream provider response.

Schema Changelog

Changes observed during successful MCP inspections.

  1. First observed

TDQS

A4.3/5.0
Behavior4/5

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

Annotations already declare readOnlyHint, openWorldHint, idempotentHint, and destructiveHint=false, covering the safety profile. The description adds valuable behavioral context by detailing the 30+ integrated databases and specific data types returned, such as ClinVar, CADD, gnomAD, and SnpEff. No contradictions with annotations.

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, front-loaded with the core action and input types, and then elaborates on the data content. The final sentence about essential uses adds context but is slightly promotional. Overall, it is appropriately sized for the tool's complexity.

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

Completeness4/5

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

Given the presence of an output schema and comprehensive annotations, the description adequately covers what the tool does, its input parameters, and the nature of the returned data. It lacks explicit guidance on when to use sibling batch/search tools, but the single-variant scope is clear from the text.

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

Parameters4/5

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

The input schema thoroughly documents both parameters (variant_id and fields) with examples and defaults. The description complements this by explaining the significance of the integrated databases (e.g., 'ClinVar clinical significance and disease conditions') and providing concrete identifier examples like 'rs671', adding meaning beyond the schema.

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

Purpose5/5

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

The description clearly states the tool retrieves comprehensive annotation for a single genetic variant, specifying the input types (dbSNP rsID or HGVS notation) and enumerating the data sources returned. This distinguishes it from sibling tools like myvariant.variants.batch (multiple variants) and myvariant.variants.search (query-based).

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 explicitly limits the tool to 'a single genetic variant', implying the appropriate context. It also notes its utility for variant interpretation pipelines and clinical classification. However, it does not explicitly state when to use alternatives (e.g., batch for multiple variants), leaving that to inference from sibling names.

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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