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variant_annotate

Annotate human genetic variants by HGVS or rsID to obtain allele frequency, functional predictions, gene, and clinical significance for variant interpretation.

Instructions

Annotate human genetic variants (MyVariant.info). 注释人类基因变异:输入 HGVS(如 chr13:g.32911145G>A)或 rsID,returns allele frequency (GnomAD/1000G), functional predictions (SIFT/PolyPhen), gene and clinical significance. 返回人群频率、功能预测、基因与临床意义,for variant interpretation. 用于变异解读。

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
variantYes

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
resultYes
Behavior4/5

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

With no annotations provided, the description carries the transparency burden. It discloses the input formats (HGVS or rsID), the data sources (GnomAD/1000G, SIFT/PolyPhen), and the categories of returned information. It does not discuss error behavior or service dependencies, but for a straightforward read-only annotation lookup this is reasonably transparent.

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 front-loaded with the core purpose and remains compact. The main inefficiency is bilingual duplication: the Chinese text largely repeats the English content, and 'for variant interpretation' appears twice. Still, the structure is clear and the redundancy is not severe.

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?

The tool has only one required parameter and an output schema exists, so the description need not detail return values. It covers accepted inputs, example formats, and the intended interpretation purpose. It would be more complete with explicit guidance on when to choose this tool over related variant or annotation tools.

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

Parameters5/5

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, and it does: it explicitly explains that the 'variant' parameter accepts HGVS notation with a concrete example (chr13:g.32911145G>A) or an rsID. This is exactly the semantic guidance an agent needs to populate the single required parameter.

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 opens with a specific verb and resource: 'Annotate human genetic variants (MyVariant.info)'. It clearly distinguishes itself from sibling tools like dbsnp_search or clinvar_query by naming a dedicated annotation service and listing its scope and output categories.

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 phrase 'for variant interpretation' gives an implied use case, and the description explains what inputs are accepted and what results are returned. However, it does not explicitly state when to prefer this tool over alternatives such as dbsnp_search or clinvar_query, nor does it mention when not to use it.

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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