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25 changes: 25 additions & 0 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -59,12 +59,37 @@ the client within your code instead.
The command above will read variants from `variants.txt` and dump the annotations to `annotations.txt`.
For any number of variants you will need to [register](mailto:support@saphetor.com) for an API key.

### Example to query CNVs

varsome_api_run.py -g hg19 -k api-key -q 'cnv/chr2:83300000:106000000:dup' -p add-all-data=1

The query parameter specifies the CNV's details such as chromosome, start and end positions, and CNV type (deletion or duplication). In this example we have chr2, 83300000 and 106000000 and dup accordingly (for deletion use del).

### Example to query Genes

varsome_api_run.py -g hg19 -k api-key -q 'gene/EGFR' -p add-all-data=1

The single gene lookup endpoint allows users to retrieve gene data associated with a specific gene symbol, specifying optional parameters such as reference genome and source databases.

## Example to query Transcripts

Try the following query to retrieve transcript-related data:

varsome_api_run.py -g hg19 -k api-key -q 'transcript/NM_001276760' -p add-all-data=1

### Example to query Single Reads

Try the following to retrieve data relevant to a single read:

varsome_api_run.py -g hg19 -k api-key -q 'single-read/AGTCCRAGTTGTAAATGGTACACTCGGCGTAAGCCTGAAAAGATAAAATCAAAGATGTAAAGGTGAGCACAGTCTAAGTTCTCTCTGAAGTGTCAATGGGAATGCAGATTGGATTAAATAAATGCTGCCCAAGTGCATACTCAAAGAGGC' -p add-all-data=1

#### Annotating a VCF file

To annotate a VCF file, use:

varsome_api_annotate_vcf.py -g hg19 -k api_key -i input.vcf -o annotated_vcf.vcf -p add-all-data=1


Notice, however, that not all available annotations will be present in the `annotated_vcf.vcf` file. Only a subset
of the returned annotations will be available when running this script. See the "Using the client in your code"
section below for how to annotate a VCF file with the annotations that are of interest to you.
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