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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: 17-75736077-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75736077&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75736077,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000200181.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "NM_000213.5",
"protein_id": "NP_000204.3",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1822,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": "ENST00000200181.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "ENST00000200181.8",
"protein_id": "ENSP00000200181.3",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 1822,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": "NM_000213.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "ENST00000449880.7",
"protein_id": "ENSP00000400217.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 1805,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "ENST00000450894.7",
"protein_id": "ENSP00000405536.3",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 1752,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 5645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "ENST00000579662.5",
"protein_id": "ENSP00000463651.1",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 1752,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "n.1749T>C",
"hgvs_p": null,
"transcript": "ENST00000580542.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "n.1684T>C",
"hgvs_p": null,
"transcript": "ENST00000584558.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "NM_001005619.2",
"protein_id": "NP_001005619.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1805,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "NM_001005731.3",
"protein_id": "NP_001005731.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1752,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "NM_001321123.2",
"protein_id": "NP_001308052.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1752,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "NM_001438834.1",
"protein_id": "NP_001425763.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1702,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5109,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "XM_006721866.4",
"protein_id": "XP_006721929.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1910,
"cds_start": 1789,
"cds_end": null,
"cds_length": 5733,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 6145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "XM_005257309.3",
"protein_id": "XP_005257366.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1875,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg",
"transcript": "XM_005257311.5",
"protein_id": "XP_005257368.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1875,
"cds_start": 1684,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 6055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "XM_047435926.1",
"protein_id": "XP_047291882.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1867,
"cds_start": 1789,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "XM_006721867.4",
"protein_id": "XP_006721930.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1857,
"cds_start": 1789,
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"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 5986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "XM_006721868.4",
"protein_id": "XP_006721931.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1840,
"cds_start": 1789,
"cds_end": null,
"cds_length": 5523,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 5935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "XM_011524751.3",
"protein_id": "XP_011523053.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1807,
"cds_start": 1789,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "XM_006721870.4",
"protein_id": "XP_006721933.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
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"cds_start": 1789,
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"cdna_start": 1938,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "XM_047435928.1",
"protein_id": "XP_047291884.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1737,
"cds_start": 1789,
"cds_end": null,
"cds_length": 5214,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 5626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "n.461T>C",
"hgvs_p": null,
"transcript": "ENST00000584374.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.265+6700T>C",
"hgvs_p": null,
"transcript": "ENST00000582629.1",
"protein_id": "ENSP00000463788.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"dbsnp": "rs121912463",
"frequency_reference_population": 0.0000020533291,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205333,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9919894337654114,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.978,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.479,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000200181.8",
"gene_symbol": "ITGB4",
"hgnc_id": 6158,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Cys562Arg"
}
],
"clinvar_disease": "Junctional epidermolysis bullosa with pyloric atresia,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Junctional epidermolysis bullosa with pyloric atresia|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}