← 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-2949663-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2949663&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2949663,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001282628.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "NM_000047.3",
"protein_id": "NP_000038.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 589,
"cds_start": 495,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381134.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000047.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000381134.9",
"protein_id": "ENSP00000370526.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 589,
"cds_start": 495,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000047.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381134.9"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.570T>G",
"hgvs_p": "p.His190Gln",
"transcript": "NM_001282628.2",
"protein_id": "NP_001269557.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 614,
"cds_start": 570,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282628.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.570T>G",
"hgvs_p": "p.His190Gln",
"transcript": "NM_001369080.1",
"protein_id": "NP_001356009.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 614,
"cds_start": 570,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369080.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.570T>G",
"hgvs_p": "p.His190Gln",
"transcript": "ENST00000545496.6",
"protein_id": "ENSP00000441417.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 614,
"cds_start": 570,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545496.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.570T>G",
"hgvs_p": "p.His190Gln",
"transcript": "ENST00000672027.1",
"protein_id": "ENSP00000500220.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 614,
"cds_start": 570,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672027.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.570T>G",
"hgvs_p": "p.His190Gln",
"transcript": "ENST00000681963.1",
"protein_id": "ENSP00000507760.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 614,
"cds_start": 570,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681963.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.570T>G",
"hgvs_p": "p.His190Gln",
"transcript": "ENST00000683290.1",
"protein_id": "ENSP00000508156.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 614,
"cds_start": 570,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683290.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.522T>G",
"hgvs_p": "p.His174Gln",
"transcript": "NM_001369079.1",
"protein_id": "NP_001356008.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 598,
"cds_start": 522,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369079.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "NM_001440751.1",
"protein_id": "NP_001427680.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 589,
"cds_start": 495,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440751.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000540563.6",
"protein_id": "ENSP00000438198.2",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 589,
"cds_start": 495,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540563.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000879212.1",
"protein_id": "ENSP00000549271.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 589,
"cds_start": 495,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879212.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000879214.1",
"protein_id": "ENSP00000549273.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 589,
"cds_start": 495,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879214.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000879215.1",
"protein_id": "ENSP00000549274.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 589,
"cds_start": 495,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879215.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000672097.1",
"protein_id": "ENSP00000500727.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 588,
"cds_start": 495,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672097.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.483T>G",
"hgvs_p": "p.His161Gln",
"transcript": "ENST00000683677.1",
"protein_id": "ENSP00000506786.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 585,
"cds_start": 483,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683677.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.483T>G",
"hgvs_p": "p.His161Gln",
"transcript": "ENST00000684364.1",
"protein_id": "ENSP00000507304.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 585,
"cds_start": 483,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684364.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.372T>G",
"hgvs_p": "p.His124Gln",
"transcript": "ENST00000682184.1",
"protein_id": "ENSP00000507043.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 548,
"cds_start": 372,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682184.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.372T>G",
"hgvs_p": "p.His124Gln",
"transcript": "ENST00000879218.1",
"protein_id": "ENSP00000549277.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 548,
"cds_start": 372,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879218.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000879217.1",
"protein_id": "ENSP00000549276.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 544,
"cds_start": 495,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879217.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.333T>G",
"hgvs_p": "p.His111Gln",
"transcript": "NM_001282631.2",
"protein_id": "NP_001269560.2",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 535,
"cds_start": 333,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282631.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.333T>G",
"hgvs_p": "p.His111Gln",
"transcript": "NM_001440750.1",
"protein_id": "NP_001427679.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 535,
"cds_start": 333,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440750.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.333T>G",
"hgvs_p": "p.His111Gln",
"transcript": "ENST00000672761.1",
"protein_id": "ENSP00000500108.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 535,
"cds_start": 333,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672761.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.333T>G",
"hgvs_p": "p.His111Gln",
"transcript": "ENST00000673032.1",
"protein_id": "ENSP00000500778.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 535,
"cds_start": 333,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673032.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.333T>G",
"hgvs_p": "p.His111Gln",
"transcript": "ENST00000684117.1",
"protein_id": "ENSP00000508337.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 535,
"cds_start": 333,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684117.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.333T>G",
"hgvs_p": "p.His111Gln",
"transcript": "ENST00000879213.1",
"protein_id": "ENSP00000549272.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 535,
"cds_start": 333,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879213.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.333T>G",
"hgvs_p": "p.His111Gln",
"transcript": "ENST00000968859.1",
"protein_id": "ENSP00000638918.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 535,
"cds_start": 333,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968859.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.333T>G",
"hgvs_p": "p.His111Gln",
"transcript": "ENST00000684077.1",
"protein_id": "ENSP00000506767.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 440,
"cds_start": 333,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684077.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000683958.1",
"protein_id": "ENSP00000507756.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 376,
"cds_start": 495,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683958.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.495T>G",
"hgvs_p": "p.His165Gln",
"transcript": "ENST00000438544.5",
"protein_id": "ENSP00000406528.1",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 177,
"cds_start": 495,
"cds_end": null,
"cds_length": 535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438544.5"
},
{
"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+3480T>G",
"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": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682364.1"
},
{
"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+3480T>G",
"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": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684738.1"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.430+3480T>G",
"hgvs_p": null,
"transcript": "ENST00000879219.1",
"protein_id": "ENSP00000549278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879219.1"
},
{
"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.268+3480T>G",
"hgvs_p": null,
"transcript": "ENST00000879216.1",
"protein_id": "ENSP00000549275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": null,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879216.1"
},
{
"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+3480T>G",
"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": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672606.1"
},
{
"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+3480T>G",
"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": null,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442109.1"
},
{
"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+3480T>G",
"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": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442110.1"
},
{
"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+3480T>G",
"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": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545521.2"
},
{
"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.275T>G",
"hgvs_p": null,
"transcript": "ENST00000683191.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000683191.1"
},
{
"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.333T>G",
"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": 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": "ENST00000684687.1"
}
],
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"dbsnp": "rs35274634",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.742891252040863,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.528,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5763,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.782,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282628.2",
"gene_symbol": "ARSL",
"hgnc_id": 719,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.570T>G",
"hgvs_p": "p.His190Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}