Skip to main content
Glama

prioritize_variants

Prioritizes genetic variants by matching patient HPO phenotype terms to rank variants most likely explaining symptoms. Supports inheritance filtering and result limits.

Instructions

Run Exomiser to prioritize patient variants by phenotype match. Provide HPO terms describing the patient's symptoms/conditions and Exomiser will rank which genetic variants most likely explain those symptoms. This is the gold-standard tool for rare disease variant prioritization. Requires Exomiser to be installed (npm run setup-exomiser). Returns nothing if Exomiser is not available — use other query tools instead.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
hpo_termsYesHPO term IDs, e.g. ['HP:0001250', 'HP:0000486']. Get terms from query_hpo.
inheritanceNoInheritance mode filter: AD=autosomal dominant, AR=autosomal recessive, XL=X-linked, any=all modesany
max_resultsNoMaximum number of top-ranked genes to return
Behavior4/5

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

With no annotations, the description carries full burden. It discloses that the tool runs Exomiser, requires installation, and may return nothing if dependencies are missing. This is good, though it doesn't detail whether the tool modifies any data or requires specific permissions.

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 three sentences, front-loaded with purpose, and each sentence adds essential context: purpose, usage, and fallback. No wasted words.

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 tool's complexity (runs external software), the description covers core aspects: purpose, input, dependency, and behavior. While no output schema exists, the description hints at return type ('rank which variants'). A more explicit description of return format would be ideal, but it's sufficient.

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?

Input schema covers 100% of parameters, but the description adds value by explaining that HPO terms describe symptoms, that they can be obtained from query_hpo, and clarifies the inheritance mode enum values. This exceeds the schema's basic documentation.

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 runs Exomiser to prioritize variants by phenotype match using HPO terms. It uses specific verbs and resources ('run Exomiser', 'prioritize variants') and distinguishes from sibling tools by being the gold-standard for rare disease variant prioritization.

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

Usage Guidelines5/5

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

Explicitly states when to use (for rare disease variant prioritization with HPO terms) and provides clear guidance on alternatives ('use other query tools instead') if Exomiser is not available. Also mentions installation prerequisite.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

Install Server

Other Tools

Latest Blog Posts

MCP directory API

We provide all the information about MCP servers via our MCP API.

curl -X GET 'https://glama.ai/api/mcp/v1/servers/HelixGenomics/Genomic-Agent-Discovery'

If you have feedback or need assistance with the MCP directory API, please join our Discord server