← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-53158596-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53158596&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53158596,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015989.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_001244705.2",
"protein_id": "NP_001231634.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000444623.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244705.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000444623.6",
"protein_id": "ENSP00000415485.1",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001244705.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444623.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493His",
"transcript": "ENST00000267085.8",
"protein_id": "ENSP00000267085.3",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 520,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267085.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000453446.6",
"protein_id": "ENSP00000410648.2",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453446.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Arg529His",
"transcript": "ENST00000943689.1",
"protein_id": "ENSP00000613748.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 556,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943689.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "ENST00000885699.1",
"protein_id": "ENSP00000555758.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 524,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885699.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493His",
"transcript": "NM_015989.5",
"protein_id": "NP_057073.4",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 520,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015989.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Arg491His",
"transcript": "ENST00000379850.7",
"protein_id": "ENSP00000369179.3",
"transcript_support_level": 5,
"aa_start": 491,
"aa_end": null,
"aa_length": 518,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379850.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000885695.1",
"protein_id": "ENSP00000555754.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885695.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000885696.1",
"protein_id": "ENSP00000555755.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885696.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000885697.1",
"protein_id": "ENSP00000555756.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885697.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000885698.1",
"protein_id": "ENSP00000555757.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885698.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000885700.1",
"protein_id": "ENSP00000555759.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885700.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000885701.1",
"protein_id": "ENSP00000555760.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000885702.1",
"protein_id": "ENSP00000555761.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885702.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000943678.1",
"protein_id": "ENSP00000613737.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943678.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000943679.1",
"protein_id": "ENSP00000613738.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943679.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000943680.1",
"protein_id": "ENSP00000613739.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943680.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000943681.1",
"protein_id": "ENSP00000613740.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943681.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000943685.1",
"protein_id": "ENSP00000613744.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943685.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000943686.1",
"protein_id": "ENSP00000613745.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943686.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000943687.1",
"protein_id": "ENSP00000613746.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943687.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000943688.1",
"protein_id": "ENSP00000613747.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943688.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450His",
"transcript": "ENST00000943683.1",
"protein_id": "ENSP00000613742.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 477,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943683.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450His",
"transcript": "ENST00000943684.1",
"protein_id": "ENSP00000613743.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 477,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943684.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "ENST00000379846.5",
"protein_id": "ENSP00000369175.1",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 346,
"cds_start": 956,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379846.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "ENST00000885703.1",
"protein_id": "ENSP00000555762.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 346,
"cds_start": 956,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885703.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "ENST00000943677.1",
"protein_id": "ENSP00000613736.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 346,
"cds_start": 956,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943677.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "ENST00000943682.1",
"protein_id": "ENSP00000613741.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 346,
"cds_start": 956,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943682.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233His",
"transcript": "NM_001244706.2",
"protein_id": "NP_001231635.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 260,
"cds_start": 698,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244706.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556His",
"transcript": "XM_047428958.1",
"protein_id": "XP_047284914.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 583,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428958.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556His",
"transcript": "XM_047428959.1",
"protein_id": "XP_047284915.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 583,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428959.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Arg529His",
"transcript": "XM_047428957.1",
"protein_id": "XP_047284913.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 556,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428957.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Arg529His",
"transcript": "XM_047428960.1",
"protein_id": "XP_047284916.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 556,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428960.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "XM_024449011.2",
"protein_id": "XP_024304779.2",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 524,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449011.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "XM_024449013.2",
"protein_id": "XP_024304781.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 524,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449013.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493His",
"transcript": "XM_047428961.1",
"protein_id": "XP_047284917.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 520,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428961.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "XM_024449012.2",
"protein_id": "XP_024304780.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449012.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "XM_024449014.2",
"protein_id": "XP_024304782.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 493,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449014.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427His",
"transcript": "XM_047428962.1",
"protein_id": "XP_047284918.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 454,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428962.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"transcript": "XM_047428964.1",
"protein_id": "XP_047284920.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 312,
"cds_start": 854,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428964.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "XM_011538449.1",
"protein_id": "XP_011536751.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 293,
"cds_start": 797,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538449.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "XM_047428965.1",
"protein_id": "XP_047284921.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 293,
"cds_start": 797,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428965.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248His",
"transcript": "XM_047428966.1",
"protein_id": "XP_047284922.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 275,
"cds_start": 743,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428966.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "n.*493-173G>A",
"hgvs_p": null,
"transcript": "ENST00000475890.5",
"protein_id": "ENSP00000436800.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475890.5"
}
],
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"dbsnp": "rs141240527",
"frequency_reference_population": 0.000022302125,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000184694,
"gnomad_genomes_af": 0.0000590869,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9275311231613159,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.757,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7268,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.553,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015989.5",
"gene_symbol": "CSAD",
"hgnc_id": 18966,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}