← 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: X-2934859-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2934859&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2934859,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000381134.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Trp581*",
"transcript": "NM_000047.3",
"protein_id": "NP_000038.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "ENST00000381134.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Trp581*",
"transcript": "ENST00000381134.9",
"protein_id": "ENSP00000370526.3",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "NM_000047.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Trp606*",
"transcript": "NM_001282628.2",
"protein_id": "NP_001269557.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 614,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Trp606*",
"transcript": "NM_001369080.1",
"protein_id": "NP_001356009.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 614,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Trp606*",
"transcript": "ENST00000545496.6",
"protein_id": "ENSP00000441417.1",
"transcript_support_level": 2,
"aa_start": 606,
"aa_end": null,
"aa_length": 614,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Trp606*",
"transcript": "ENST00000672027.1",
"protein_id": "ENSP00000500220.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 614,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Trp606*",
"transcript": "ENST00000681963.1",
"protein_id": "ENSP00000507760.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 614,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Trp606*",
"transcript": "ENST00000683290.1",
"protein_id": "ENSP00000508156.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 614,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Trp590*",
"transcript": "NM_001369079.1",
"protein_id": "NP_001356008.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 598,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Trp581*",
"transcript": "NM_001440751.1",
"protein_id": "NP_001427680.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Trp581*",
"transcript": "ENST00000540563.6",
"protein_id": "ENSP00000438198.2",
"transcript_support_level": 2,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1740G>A",
"hgvs_p": "p.Trp580*",
"transcript": "ENST00000672097.1",
"protein_id": "ENSP00000500727.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 588,
"cds_start": 1740,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Trp577*",
"transcript": "ENST00000683677.1",
"protein_id": "ENSP00000506786.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 585,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Trp577*",
"transcript": "ENST00000684364.1",
"protein_id": "ENSP00000507304.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 585,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1620G>A",
"hgvs_p": "p.Trp540*",
"transcript": "ENST00000682184.1",
"protein_id": "ENSP00000507043.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 548,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1581G>A",
"hgvs_p": "p.Trp527*",
"transcript": "NM_001282631.2",
"protein_id": "NP_001269560.2",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 535,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1581G>A",
"hgvs_p": "p.Trp527*",
"transcript": "NM_001440750.1",
"protein_id": "NP_001427679.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 535,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1581G>A",
"hgvs_p": "p.Trp527*",
"transcript": "ENST00000672761.1",
"protein_id": "ENSP00000500108.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 535,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1581G>A",
"hgvs_p": "p.Trp527*",
"transcript": "ENST00000673032.1",
"protein_id": "ENSP00000500778.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 535,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1581G>A",
"hgvs_p": "p.Trp527*",
"transcript": "ENST00000684117.1",
"protein_id": "ENSP00000508337.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 535,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1296G>A",
"hgvs_p": "p.Trp432*",
"transcript": "ENST00000684077.1",
"protein_id": "ENSP00000506767.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 440,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Trp394*",
"transcript": "ENST00000682364.1",
"protein_id": "ENSP00000507604.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 402,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Trp394*",
"transcript": "ENST00000684738.1",
"protein_id": "ENSP00000507481.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 402,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1257G>A",
"hgvs_p": "p.Trp419*",
"transcript": "XM_047442109.1",
"protein_id": "XP_047298065.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 427,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1209G>A",
"hgvs_p": "p.Trp403*",
"transcript": "XM_047442110.1",
"protein_id": "XP_047298066.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 411,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Trp394*",
"transcript": "XM_011545521.2",
"protein_id": "XP_011543823.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 402,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "n.1523G>A",
"hgvs_p": null,
"transcript": "ENST00000683191.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "n.*716G>A",
"hgvs_p": null,
"transcript": "ENST00000684687.1",
"protein_id": "ENSP00000507266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"dbsnp": "rs80338714",
"frequency_reference_population": 0.000018355053,
"hom_count_reference_population": 8,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.000017472,
"gnomad_genomes_af": 0.0000269961,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49000000953674316,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.206,
"phylop100way_prediction": "Benign",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PP5_Very_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 1,
"pathogenic_score": 10,
"criteria": [
"PVS1_Moderate",
"PP5_Very_Strong",
"BS2_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000381134.9",
"gene_symbol": "ARSL",
"hgnc_id": 719,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Trp581*"
}
],
"clinvar_disease": " autosomal, brachytelephalangic,Chondrodysplasia punctata,Inborn genetic diseases,See cases,X-linked chondrodysplasia punctata 1,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:5 O:1",
"phenotype_combined": "X-linked chondrodysplasia punctata 1|not provided|See cases|Inborn genetic diseases|Chondrodysplasia punctata, brachytelephalangic, autosomal",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}