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berntpopp
by berntpopp

Get Variant Counts

get_variant_counts
Read-onlyIdempotent

Retrieve per-position variant counts from gnomAD and/or ClinVar for a transcript, with optional range and source filtering.

Instructions

Return per-position gnomAD and/or ClinVar variant counts on a built landscape, filtered by source (both|gnomad|clinvar). Accepts a single position, a [position_start, position_stop] range, or the whole protein (paginated); when source includes clinvar each residue's ClinVar variants are listed with NCBI urls. Signature: get_variant_counts(transcript_id=, position=, position_start=, position_stop=, source=, response_mode=).

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
transcript_idYesA versioned Ensembl transcript id (the .N version suffix is required), e.g. ENST00000269305.4. Resolve a gene symbol with resolve_transcript first.
positionNoA single 1-based residue position.
position_startNoInclusive start of a residue range.
position_stopNoInclusive stop of a residue range.
sourceNoVariant source to report: both|gnomad|clinvar (default both).both
response_modeNoVerbosity: minimal|compact|standard|full (default compact).compact

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
successYes
_metaNo
error_codeNo
messageNo
retryableNo
recovery_actionNo
fieldNo
hintNo
candidatesNo
recommended_citationNo
data_versionsNo
transcript_idNo
sourceNo
totalNo
returnedNo
positionsNo
paginationNo
Behavior4/5

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

Annotations already provide readOnlyHint, destructiveHint, idempotentHint, openWorldHint. Description adds that when source includes clinvar, each residue's ClinVar variants are listed with NCBI URLs, and mentions pagination for the whole protein. No contradiction.

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

Conciseness5/5

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

Two sentences: first sentence states purpose and filters, second adds detail and signature. No redundancy, well-structured, front-loaded.

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

Completeness5/5

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

Given annotations (readOnly, idempotent, openWorld) and existence of output schema, description covers all needed context: input flexibility, filters, pagination, and special ClinVar URL behavior.

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?

Schema description coverage is 100%, baseline 3. Description adds value beyond schema by summarizing input modes, range acceptance, pagination, and URL behavior, and providing a full signature.

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?

Description uses specific verb 'Return' and resource 'per-position gnomAD and/or ClinVar variant counts'. It clearly distinguishes from sibling tools like get_position_tolerance or get_protein_domains by focusing on variant counts.

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?

Description explicitly states the accepted input forms: single position, range, or whole protein (paginated). It also lists filters and signature, but does not explicitly exclude scenarios or mention alternatives.

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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