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uniprot_lookup_variant

Read-only

Look up an HGVS amino-acid change in UniProt's natural-variant annotations to retrieve curated variant descriptions and disease associations.

Instructions

Look up an HGVS-shorthand amino-acid change (e.g. R175H, V600E, R248*) in the UniProt entry's natural-variant annotations. Returns the matching variant feature(s) including the UniProt-curated description (often a disease association). A null result here does NOT mean a variant is benign — UniProt only annotates literature-described variants; ClinVar / dbSNP carry population-level data.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
changeYesHGVS-shorthand amino-acid change, e.g. 'R175H', 'V600E', 'R248*' (stop). Format: <original residue><1-indexed position><alt residue or '*'>.
accessionYesUniProt accession, e.g. 'P04637' (human TP53) or 'P38398' (human BRCA1). Both reviewed (Swiss-Prot) and unreviewed (TrEMBL) accessions are accepted; case-sensitive.
response_formatNo'markdown' (default) for a human-readable report with a provenance footer, or 'json' for a machine-parseable structured payload with the same data. Any other value is rejected.markdown

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
resultYes
Behavior4/5

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

Annotations already indicate readOnlyHint and openWorldHint. The description adds valuable behavioral context: the limitation of UniProt annotations (literature-described only) and interpretation of null results, which goes beyond the annotations.

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?

The description is concise and front-loaded with the core purpose, followed by examples and a critical caveat. Every sentence adds value without unnecessary text.

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 the presence of an output schema, the description does not need to detail return values. It adequately covers purpose, parameter examples, and an important limitation (null meaning). The tool is fairly simple, and the description is complete for effective use.

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 coverage is 100%, but the description adds examples for 'change' and 'accession', and clarifies the default and constraint for 'response_format'. This improves understanding beyond the schema alone.

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 it looks up an HGVS-shorthand amino-acid change in UniProt's natural-variant annotations, provides examples, and explains the return type. However, it does not explicitly differentiate from sibling tools like uniprot_get_variants, which might also retrieve variant information.

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

Usage Guidelines3/5

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

The description implicitly suggests use for variant lookup but does not explicitly state when to use this tool versus alternatives. It does provide a helpful caveat about null results, advising consultation of ClinVar/dbSNP, which partially guides usage.

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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