ClinVar 临床意义查询：参数与补充说明¶

用法和示例见功能教程。

各功能按作用、API、输入、输出、示例代码和结果说明介绍。运行前按说明准备凭据、本地文件与可选依赖；远程结果随数据库版本与查询时间变化。

查询 ClinVar 变异临床意义¶

dnakit.databases.clin_var_get_clinical_significance(*, variant_id, verbose=True)

参数	类型	必填 / 默认值	说明与约束
`variant_id`	string	必填	ClinVar variant ID (e.g., '12345', '123456')
`verbose`	bool	True	运行提示开关。

查询 ClinVar 变异摘要与审查状态¶

dnakit.databases.clin_var_get_variant_details(*, variant_id, verbose=True)

参数	类型	必填 / 默认值	说明与约束
`variant_id`	string	必填	ClinVar variant ID (e.g., '12345', '123456')
`verbose`	bool	True	运行提示开关。

按基因、疾病或编号检索 ClinVar 变异¶

dnakit.databases.clin_var_search_variants(*, gene=None, condition=None, variant_id=None, variant_name=None, max_results=None, limit=None, clinical_significance=None, gene_symbol=None, significance=None, query=None, variant=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
`gene`	string	None	Gene name or symbol (e.g., 'BRCA1', 'BRCA2') At least one of gene, condition, or variant_id must be provided.
`condition`	string	None	Disease or condition name (e.g., 'breast cancer', 'diabetes') At least one of gene, condition, or variant_id must be provided. Matched against ClinVar's disease index, which carries MedGen's own condition names exactly -- a synonym, a locus name or a misspelling ('Lebers congenital amaurosis' for the indexed 'Leber congenital amaurosis') matches nothing there, so the search falls back to an unrestricted free-text match. When that happens the response says so: 'condition_filter_applied': false plus a 'condition_filter_warning', meaning total_count is NOT a disease-filtered count. Use MedGen_search_conditions to get the indexed name.
`variant_id`	string	None	ClinVar variant ID (e.g., '12345') At least one of gene, condition, or variant_id must be provided.
`variant_name`	string \| array \| null	None	Protein change or HGVS notation to search for (e.g., 'Glu6Val', 'V600E', 'c.20A>T'), matched against ClinVar's own [Variant name] index -- combine with 'gene' for an exact-match lookup of a specific known variant instead of browsing all of a gene's ClinVar entries. A gene-level browse can silently miss well-known but old/low-ID records once a gene has more entries than max_results (e.g. HBB's canonical sickle-cell record, NM_000518.5(HBB):c.20A>T (p.Glu7Val), isn't within the first 100-425 gene-level rows). Accepts a list to try multiple candidate names in one call (e.g. every allele at a multi-allelic site) -- combined with OR.
`max_results`	integer	None	Maximum number of results to return (default: 20). Alias: limit.
`limit`	integer	None	Alias for max_results: maximum number of results to return.
`clinical_significance`	string	None	Filter by clinical significance. Must be one of the classes ClinVar's index actually recognizes: 'Pathogenic', 'Likely pathogenic', 'Uncertain significance', 'VUS', 'Likely benign', 'Benign', 'Established risk allele', 'Likely risk allele', 'Uncertain risk allele', 'drug response', 'risk factor', 'not provided', 'other'. Case-insensitive; underscores/hyphens are treated as spaces. Combine two classes with '/' to search their union (e.g. 'Pathogenic/Likely pathogenic'). Any other value is rejected with an error rather than silently filtering the results to nothing.
`gene_symbol`	string \| null	None	Alias for gene. HGNC gene symbol (e.g., "DPYD", "CYP2C19").
`significance`	string \| null	None	Alias for clinical_significance (e.g., "pathogenic", "benign", "uncertain_significance"). Same accepted value set and same validation as clinical_significance.
`query`	string \| null	None	Alias for condition. Free-text search mapped to condition/disease field.
`variant`	string \| array \| null	None	DNAKit optional alias for variant_name
`verbose`	bool	True	运行提示开关。