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query_gene

Cross-reference ClinVar, GWAS, and AlphaMissense to find all known variants for a gene and check which ones the patient carries. Start here to investigate a specific gene.

Instructions

Find ALL known variants for a gene by cross-referencing ClinVar, GWAS, and AlphaMissense. Then checks which of those variants the patient actually carries. This is the best starting point for investigating a specific gene.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
geneYesGene symbol, e.g. 'BRCA1', 'CYP2D6'
Behavior3/5

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

No annotations provided, so description carries full burden. Describes cross-referencing and patient carrier check, but lacks details on side effects, permissions, or return format. Adequate but not comprehensive.

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 minimal and direct, first explaining action, second recommending usage. No superfluous text.

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?

Tool has 1 parameter, no output schema, no annotations. Description covers purpose and usage but omits return value format, which is important for an aggregating tool. Adequate but incomplete.

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

Parameters3/5

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

Schema coverage 100% with parameter 'gene' already described. Description adds no additional meaning to the parameter, meeting baseline but not exceeding.

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?

Specific verb 'Find ALL known variants' and resource 'gene cross-referencing ClinVar, GWAS, and AlphaMissense'. Clearly distinguishes from siblings like query_clinvar, query_gwas, and query_alphamissense that target individual databases.

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?

States 'best starting point for investigating a specific gene', providing clear when-to-use guidance. Does not explicitly list when not to use or alternatives, but context with sibling tools implies appropriate 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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