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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-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2949663&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2949663,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000381134.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His165His",
"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": 633,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "ENST00000381134.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His165His",
"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": 633,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "NM_000047.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His190His",
"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": 919,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His190His",
"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": 898,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His190His",
"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": 862,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His190His",
"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": 898,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His190His",
"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": 828,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His190His",
"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": 914,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His174His",
"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": 612,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His165His",
"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": 681,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His165His",
"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": 668,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His165His",
"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": 842,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His161His",
"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": 568,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His161His",
"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": 616,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His124His",
"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": 449,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His111His",
"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": 450,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His111His",
"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": 471,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His111His",
"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": 450,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His111His",
"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": 598,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His111His",
"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": 498,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His111His",
"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": 333,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His165His",
"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": 898,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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>C",
"hgvs_p": "p.His165His",
"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,
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],
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"dbsnp": "rs35274634",
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"allele_count_reference_population": 20576,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.782,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000381134.9",
"gene_symbol": "ARSL",
"hgnc_id": 719,
"effects": [
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],
"inheritance_mode": "XL",
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His"
}
],
"clinvar_disease": " autosomal, brachytelephalangic,Chondrodysplasia punctata,Connective tissue disorder,X-linked chondrodysplasia punctata 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|X-linked chondrodysplasia punctata 1|Chondrodysplasia punctata, brachytelephalangic, autosomal|Connective tissue disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}