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genebass-gene-burden-skill

Submit compact Genebass gene burden requests for one Ensembl gene ID and one burden set. Use when a user wants concise Genebass PheWAS summaries

71

Quality

89%

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SKILL.md
Quality
Evals
Security

Quality

Content

100%Weight 40%Scale 1-5

Reviews the quality of instructions and guidance provided to agents. Good implementation is clear, handles edge cases, and produces reliable results.

The body is an exemplar of a lean, single-purpose skill: operational rules, exact input and output contracts, an enumerated parameter domain, and a copy-paste ready invocation, with nothing padded or over-explained. The single referenced bundle file exists and its interface matches the documented contract.

DimensionReasoningScore

Conciseness

The ~35-line body is entirely operational — operating rules, input forms, output fields, and one executable command — with no explanation of what Genebass, Ensembl, or PheWAS is. Every line adds guidance Claude could not infer, matching the anchor for lean, efficient content where every token earns its place.

5 / 5

Actionability

The execution section gives a copy-paste ready command (`echo '{...}' | python scripts/genebass_gene_burden.py`), both input forms are shown with concrete examples, the output fields are enumerated, and the supported burden sets are listed with alias handling noted. This matches the anchor for fully executable, copy-paste ready guidance covering the common cases.

5 / 5

Workflow Clarity

This is a simple single-purpose skill (one gene, one read-only script call) and the single action is unambiguous: pipe JSON to the script and read its `ok`/`error` output, with success and failure shapes both documented. Per the rubric's simple-skill exception this scores at the top; no validation checkpoint is needed for a read-only fetch.

5 / 5

Progressive Disclosure

The body is under 50 lines, well-organized into clearly labeled sections, and needs no external references — the References section explicitly scopes the bundle to this file and the script. The one referenced bundle path (`scripts/genebass_gene_burden.py`) is a real file whose stdin/burden-set/error interface matches what the body documents, matching the under-50-lines guideline for a top score.

5 / 5

Total

20

/

20

Passed

Description

73%Weight 40%Scale 1-5

Based on the skill's description, can an agent find and select it at the right time? Clear, specific descriptions lead to better discovery.

The description is concise, in third person, and clearly scoped to a niche domain with both a what and a when clause. Its main weakness is limited action coverage — it states a single action rather than enumerating the concrete capabilities — and a single trigger phrase rather than a broader set of natural trigger terms.

Suggestions

Enumerate the concrete capabilities instead of one action verb, e.g., "Fetches Genebass PheWAS associations for a single Ensembl gene ID across pLoF, missense|LC, or synonymous burden sets, and returns concise summaries".

Broaden the trigger clause with natural variations users would say, e.g., "Use when the user mentions Genebass, gene burden tests, PheWAS results, or wants phenotype associations for an Ensembl gene".

State the output form in the description (concise markdown summary vs raw JSON) so users know what the skill returns without opening the body.

DimensionReasoningScore

Specificity

"Submit compact Genebass gene burden requests for one Ensembl gene ID and one burden set" names the domain with specific parameters (Ensembl gene ID, burden set) but relies on a single action verb ("submit requests"). This matches the anchor for naming the domain with 1-2 concrete actions that are not comprehensive, rather than listing several specific actions (4).

3 / 5

Completeness

Both "what" ("Submit compact Genebass gene burden requests for one Ensembl gene ID and one burden set") and "when" ("Use when a user wants concise Genebass PheWAS summaries") are explicitly stated in third person. The single trigger clause could be more specific with additional concrete trigger phrases, so it does not reach the clearly-explicit multi-trigger example of the top anchor.

4 / 5

Trigger Term Quality

Natural domain terms users would say are present: "Genebass", "gene burden", "Ensembl gene ID", "PheWAS". A few natural variations are missing (e.g., "burden test", "LoF/pLoF", "phenotype associations"), so it falls short of the comprehensive synonym coverage of the top anchor.

4 / 5

Distinctiveness Conflict Risk

"Genebass gene burden" is a clear niche with distinct triggers (Genebass, PheWAS, Ensembl gene ID, burden set); no other common skill would fire on these terms. This matches the anchor for a clear niche with minimal conflict risk.

5 / 5

Total

16

/

20

Passed

Validation

100%

Checks the skill against the spec for correct structure and formatting. All validation checks must pass before discovery and implementation can be scored.

Validation — 16 / 16 Passed

Validation for skill structure

No warnings or errors.

Repository

openai/plugins

Path

plugins/life-science-research/skills/genebass-gene-burden-skill/SKILL.md

Reviewed

Table of Contents

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