← 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-2949610-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2949610&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2949610,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000381134.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "NM_000047.3",
"protein_id": "NP_000038.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 589,
"cds_start": 548,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "ENST00000381134.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "ENST00000381134.9",
"protein_id": "ENSP00000370526.3",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 589,
"cds_start": 548,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "NM_000047.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "NM_001282628.2",
"protein_id": "NP_001269557.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 614,
"cds_start": 623,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "NM_001369080.1",
"protein_id": "NP_001356009.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 614,
"cds_start": 623,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000545496.6",
"protein_id": "ENSP00000441417.1",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 614,
"cds_start": 623,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000672027.1",
"protein_id": "ENSP00000500220.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 614,
"cds_start": 623,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000681963.1",
"protein_id": "ENSP00000507760.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 614,
"cds_start": 623,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000683290.1",
"protein_id": "ENSP00000508156.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 614,
"cds_start": 623,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "NM_001369079.1",
"protein_id": "NP_001356008.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 598,
"cds_start": 575,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "NM_001440751.1",
"protein_id": "NP_001427680.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 589,
"cds_start": 548,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "ENST00000540563.6",
"protein_id": "ENSP00000438198.2",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 589,
"cds_start": 548,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "ENST00000672097.1",
"protein_id": "ENSP00000500727.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 588,
"cds_start": 548,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "ENST00000683677.1",
"protein_id": "ENSP00000506786.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 585,
"cds_start": 536,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "ENST00000684364.1",
"protein_id": "ENSP00000507304.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 585,
"cds_start": 536,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "ENST00000682184.1",
"protein_id": "ENSP00000507043.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 548,
"cds_start": 425,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "NM_001282631.2",
"protein_id": "NP_001269560.2",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 535,
"cds_start": 386,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "NM_001440750.1",
"protein_id": "NP_001427679.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 535,
"cds_start": 386,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000672761.1",
"protein_id": "ENSP00000500108.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 535,
"cds_start": 386,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000673032.1",
"protein_id": "ENSP00000500778.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 535,
"cds_start": 386,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000684117.1",
"protein_id": "ENSP00000508337.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 535,
"cds_start": 386,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000684077.1",
"protein_id": "ENSP00000506767.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 440,
"cds_start": 386,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "ENST00000683958.1",
"protein_id": "ENSP00000507756.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 376,
"cds_start": 548,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 1820,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "n.328G>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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "n.386G>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.430+3533G>A",
"hgvs_p": null,
"transcript": "ENST00000682364.1",
"protein_id": "ENSP00000507604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.430+3533G>A",
"hgvs_p": null,
"transcript": "ENST00000684738.1",
"protein_id": "ENSP00000507481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.430+3533G>A",
"hgvs_p": null,
"transcript": "ENST00000672606.1",
"protein_id": "ENSP00000500638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": -4,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.505+3533G>A",
"hgvs_p": null,
"transcript": "XM_047442109.1",
"protein_id": "XP_047298065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": -4,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.457+3533G>A",
"hgvs_p": null,
"transcript": "XM_047442110.1",
"protein_id": "XP_047298066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.430+3533G>A",
"hgvs_p": null,
"transcript": "XM_011545521.2",
"protein_id": "XP_011543823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"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": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.*13G>A",
"hgvs_p": null,
"transcript": "ENST00000438544.5",
"protein_id": "ENSP00000406528.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"dbsnp": "rs34412194",
"frequency_reference_population": 0.0044821794,
"hom_count_reference_population": 1541,
"allele_count_reference_population": 5419,
"gnomad_exomes_af": 0.0036415,
"gnomad_genomes_af": 0.0128116,
"gnomad_exomes_ac": 3999,
"gnomad_genomes_ac": 1420,
"gnomad_exomes_homalt": 28,
"gnomad_genomes_homalt": 18,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005012631416320801,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.0644,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.672,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000381134.9",
"gene_symbol": "ARSL",
"hgnc_id": 719,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His"
}
],
"clinvar_disease": " autosomal, brachytelephalangic,Chondrodysplasia punctata,Connective tissue disorder,X-linked chondrodysplasia punctata 1,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:6",
"phenotype_combined": "not specified|not provided|X-linked chondrodysplasia punctata 1|Chondrodysplasia punctata, brachytelephalangic, autosomal|Connective tissue disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}