Folklore Clinical Variant Interpretation MCP

Read the complete gene profile

get_gene_profile

Read-onlyIdempotent

Read the selected gene_id and immutable snapshot_id from resolve_gene. Returns overview, disease validity, dosage, mechanisms, transcripts, native assemblies, constraint, ClinVar summaries and consequences, expression, GWAS, phenotypes and protein/pathways with source assertions, coverage, count units and null values. get_gene_section supplies further pages. Live search_gene_literature is separate from the snapshot literature section.

Input Schema

Name	Required	Description	Default
`gene_id`	Yes	Canonical HGNC gene_id returned by resolve_gene. Select an explicit candidate when resolution is ambiguous.
`snapshot_id`	Yes	identity_snapshot_id returned by resolve_gene, or snapshot_id from the current gene profile. Restart resolution after snapshot_unavailable.

Output Schema

Name	Required	Description	Default
`result`	Yes
`record_url`	Yes
`adapter_error`	Yes
`contract_version`	Yes

Schema Changelog

Changes observed during successful MCP inspections.

Changed3 schema fields changedOct 31, 2026

changedOutput schema / properties / contract_version / const
```
Previous value: -"1"New value: +"2"
```

removedOutput schema / properties / usage_boundary

Removed value: -{
-  "additionalProperties": false,
-  "properties": {
-    "changes_variant_classification": {
-      "const": false
-    },
-    "intended_use": {
-      "const": "professional_gene_reference_review"
-    },
-    "not_for": {
-      "const": [
-        "patient_diagnosis",
-        "treatment_decision",
-        "variant_pathogenicity_classification"
-      ]
-    },
-    "patient_context_evaluated": {
-      "const": false
-    },
-    "review_required": {
-      "const": true
-    }
-  },
-  "required": [
-    "intended_use",
-    "patient_context_evaluated",
-    "review_required",
-    "changes_variant_classification",
-    "not_for"
-  ],
-  "type": "object"
-}

changedOutput schema / required

Previous value: -[
-  "contract_version",
-  "result",
-  "record_url",
-  "usage_boundary",
-  "adapter_error"
-]New value: +[
+  "contract_version",
+  "result",
+  "record_url",
+  "adapter_error"
+]

AddedOct 30, 2026

TDQS

A4.3/5.0

Behavior4/5

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

The annotations already establish read-only, idempotent, closed-world behavior with no destruction. The description adds useful behavioral context by calling the snapshot immutable, summarizing the returned domains, and noting source assertions, coverage, count units, and null values; error/retry guidance is left mainly to the schema.

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 front-loaded and compact: the first sentence states the core operation and source, the second summarizes the returned profile, and the third routes to alternatives. Every sentence is functional.

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?

An output schema exists, so the description need not fully enumerate return fields; it appropriately summarizes the rich profile content. Combined with annotations and 100% parameter coverage, it provides enough context for selecting and invoking the tool correctly.

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 description coverage is 100%, so both arguments are already well documented with patterns and provenance. The description reinforces that gene_id is the selected gene and snapshot_id is immutable, but it does not add syntax or format details beyond the schema.

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 gives a specific verb and resource: read the selected gene profile using gene_id and snapshot_id from resolve_gene. It also distinguishes sibling behavior by naming get_gene_section for further pages and separating live search_gene_literature from the snapshot literature section.

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?

It clearly situates the tool after resolve_gene and names get_gene_section as the way to obtain further pages, while noting that live literature search is separate. It stops short of an explicit when-not rule, but the alternatives and context are clear enough for correct selection.

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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