This is a simple Spring Boot app to demonstrate how to set-up and use the Exomiser programmatically from within another Spring application.
To run it:
java -jar exomiser-demo-0.0.1-SNAPSHOT.jar --exomiser.data-directory=/home/user/exomiser-dir/data
The application simply reads the file specified by the vcf
path parameter, performs a Phive analysis according to the supplied phenotypes
and returns the results in the specified format
. In a browser you can then visit:
http://localhost:8080/analyse/?vcf=/home/user/Pfeiffer.vcf&phenotypes=HP:0001156,HP:0001363,HP:0011304,HP:0010055&format=HTML
or you can curl the results in VCF, TSV_GENE or TSV_VARIANT flatfile formats.