Medical Genetics and Human Variation

https://www.ncbi.nlm.nih.gov/variation/

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Medical Genetics and Human Variation provides resources for human genetic variation and phenotypes,...

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### GET /variation/view/

Source: https://www.ncbi.nlm.nih.gov/variation/view/help

Constructs a customized view of the Variation Viewer using query parameters.

```APIDOC
## GET /variation/view/

### Description
Links to the Variation Viewer with customized display settings based on provided query parameters.

### Method
GET

### Endpoint
http://www.ncbi.nlm.nih.gov/variation/view/

### Parameters
#### Query Parameters
- **assm** (string) - Optional - Specifies the genome assembly (e.g., GCF_000001405.28 for GRCh38.p2).
- **chr** (string) - Optional - Specifies the chromosome name or top-level accession (e.g., 'chr=1', 'chr=MT').
- **from** (integer) - Optional - Start position of the genomic range (1-based).
- **to** (integer) - Optional - End position of the genomic range (1-based).
- **q** (string) - Optional - Search term (gene symbol, RS ID, dbVar ID, gene ID, or cytogenetic band).
- **filters** (string) - Optional - Filter selections for the Variant Table (e.g., 'source:dbsnp', 'inclinvar:1').
- **mk** (string) - Optional - Markers to highlight regions of interest, formatted as 'position|label' or 'start:end|label'.

### Request Example
http://www.ncbi.nlm.nih.gov/variation/view/?q=APOE&filters=source:dbsnp+inclinvar:1#data
```

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### VCF Record with CLNALLE Mapping

Source: https://www.ncbi.nlm.nih.gov/variation/docs/faq

Example of a VCF record where the CLNALLE tag maps clinical data to multiple alternate alleles.

```text
15 48796042 rs140603 G A,C . . RSPOS=48796042;RV;GMAF=0.0027;dbSNPBuildID=78;SSR=0;SAO=1;VP=050368000b05050517100100;
                               GENEINFO=FBN1:2200;WGT=1;VC=SNV;PM;PMC;S3D;SLO;NSM;REF;SYN;ASP;VLD;G5;HD;GNO;KGPhase1;
                               KGPROD;OTHERKG;PH3;LSD;CLNALLE=1,2;
                               CLNHGVS=NC_000015.9:g.48796042G>A,NC_000015.9:g.48796042G>C;CLNSRC=Correlagen,Correlagen;
                               CLNORIGIN=1,1;CLNSIG=2,4;CLNDBN=Marfan Syndrome, Marfan Syndrome
```

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