← 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-2934868-GGG-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2934868&ref=GGG&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARSL",
"hgnc_id": 719,
"hgvs_c": "c.1807_1809delCCCinsAGT",
"hgvs_p": "p.Pro603Ser",
"inheritance_mode": "XL",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001282628.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000047.3",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1732_1734delCCCinsAGT",
"hgvs_p": "p.Pro578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381134.9",
"protein_coding": true,
"protein_id": "NP_000038.2",
"strand": false,
"transcript": "NM_000047.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381134.9",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1732_1734delCCCinsAGT",
"hgvs_p": "p.Pro578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000047.3",
"protein_coding": true,
"protein_id": "ENSP00000370526.3",
"strand": false,
"transcript": "ENST00000381134.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282628.2",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1807_1809delCCCinsAGT",
"hgvs_p": "p.Pro603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269557.1",
"strand": false,
"transcript": "NM_001282628.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369080.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1807_1809delCCCinsAGT",
"hgvs_p": "p.Pro603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356009.1",
"strand": false,
"transcript": "NM_001369080.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545496.6",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1807_1809delCCCinsAGT",
"hgvs_p": "p.Pro603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441417.1",
"strand": false,
"transcript": "ENST00000545496.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672027.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1807_1809delCCCinsAGT",
"hgvs_p": "p.Pro603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500220.1",
"strand": false,
"transcript": "ENST00000672027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681963.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1807_1809delCCCinsAGT",
"hgvs_p": "p.Pro603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507760.1",
"strand": false,
"transcript": "ENST00000681963.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683290.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1807_1809delCCCinsAGT",
"hgvs_p": "p.Pro603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508156.1",
"strand": false,
"transcript": "ENST00000683290.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 598,
"aa_ref": "P",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369079.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1759_1761delCCCinsAGT",
"hgvs_p": "p.Pro587Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356008.1",
"strand": false,
"transcript": "NM_001369079.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440751.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1732_1734delCCCinsAGT",
"hgvs_p": "p.Pro578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427680.1",
"strand": false,
"transcript": "NM_001440751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 1907,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540563.6",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1732_1734delCCCinsAGT",
"hgvs_p": "p.Pro578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438198.2",
"strand": false,
"transcript": "ENST00000540563.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879212.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1732_1734delCCCinsAGT",
"hgvs_p": "p.Pro578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549271.1",
"strand": false,
"transcript": "ENST00000879212.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879214.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1732_1734delCCCinsAGT",
"hgvs_p": "p.Pro578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549273.1",
"strand": false,
"transcript": "ENST00000879214.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879215.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1732_1734delCCCinsAGT",
"hgvs_p": "p.Pro578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549274.1",
"strand": false,
"transcript": "ENST00000879215.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 588,
"aa_ref": "P",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672097.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1729_1731delCCCinsAGT",
"hgvs_p": "p.Pro577Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500727.1",
"strand": false,
"transcript": "ENST00000672097.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 585,
"aa_ref": "P",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1720,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683677.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1720_1722delCCCinsAGT",
"hgvs_p": "p.Pro574Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506786.1",
"strand": false,
"transcript": "ENST00000683677.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 585,
"aa_ref": "P",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1720,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684364.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1720_1722delCCCinsAGT",
"hgvs_p": "p.Pro574Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507304.1",
"strand": false,
"transcript": "ENST00000684364.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682184.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1609_1611delCCCinsAGT",
"hgvs_p": "p.Pro537Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507043.1",
"strand": false,
"transcript": "ENST00000682184.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1766,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879218.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1609_1611delCCCinsAGT",
"hgvs_p": "p.Pro537Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549277.1",
"strand": false,
"transcript": "ENST00000879218.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "P",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879217.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1597_1599delCCCinsAGT",
"hgvs_p": "p.Pro533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549276.1",
"strand": false,
"transcript": "ENST00000879217.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282631.2",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1570_1572delCCCinsAGT",
"hgvs_p": "p.Pro524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269560.2",
"strand": false,
"transcript": "NM_001282631.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440750.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1570_1572delCCCinsAGT",
"hgvs_p": "p.Pro524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427679.1",
"strand": false,
"transcript": "NM_001440750.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672761.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1570_1572delCCCinsAGT",
"hgvs_p": "p.Pro524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500108.1",
"strand": false,
"transcript": "ENST00000672761.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673032.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1570_1572delCCCinsAGT",
"hgvs_p": "p.Pro524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500778.1",
"strand": false,
"transcript": "ENST00000673032.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684117.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1570_1572delCCCinsAGT",
"hgvs_p": "p.Pro524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508337.1",
"strand": false,
"transcript": "ENST00000684117.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879213.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1570_1572delCCCinsAGT",
"hgvs_p": "p.Pro524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549272.1",
"strand": false,
"transcript": "ENST00000879213.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968859.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1570_1572delCCCinsAGT",
"hgvs_p": "p.Pro524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638918.1",
"strand": false,
"transcript": "ENST00000968859.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 440,
"aa_ref": "P",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684077.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1285_1287delCCCinsAGT",
"hgvs_p": "p.Pro429Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506767.1",
"strand": false,
"transcript": "ENST00000684077.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 402,
"aa_ref": "P",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1294,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682364.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1171_1173delCCCinsAGT",
"hgvs_p": "p.Pro391Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507604.1",
"strand": false,
"transcript": "ENST00000682364.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 402,
"aa_ref": "P",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1317,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684738.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1171_1173delCCCinsAGT",
"hgvs_p": "p.Pro391Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507481.1",
"strand": false,
"transcript": "ENST00000684738.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 402,
"aa_ref": "P",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879219.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1171_1173delCCCinsAGT",
"hgvs_p": "p.Pro391Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549278.1",
"strand": false,
"transcript": "ENST00000879219.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 348,
"aa_ref": "P",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1143,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1047,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879216.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1009_1011delCCCinsAGT",
"hgvs_p": "p.Pro337Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549275.1",
"strand": false,
"transcript": "ENST00000879216.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 427,
"aa_ref": "P",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442109.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1246_1248delCCCinsAGT",
"hgvs_p": "p.Pro416Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298065.1",
"strand": false,
"transcript": "XM_047442109.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 411,
"aa_ref": "P",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442110.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1198_1200delCCCinsAGT",
"hgvs_p": "p.Pro400Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298066.1",
"strand": false,
"transcript": "XM_047442110.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 402,
"aa_ref": "P",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011545521.2",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1171_1173delCCCinsAGT",
"hgvs_p": "p.Pro391Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543823.1",
"strand": false,
"transcript": "XM_011545521.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683191.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "n.1512_1514delCCCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000683191.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684687.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "n.*705_*707delCCCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507266.1",
"strand": true,
"transcript": "ENST00000684687.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.188,
"pos": 2934868,
"ref": "GGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001282628.2"
}
]
}