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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: 2-172475080-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=172475080&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 172475080,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000684293.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"transcript": "NM_001394928.1",
"protein_id": "NP_001381857.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1255,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": "ENST00000442250.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"transcript": "ENST00000442250.6",
"protein_id": "ENSP00000406694.1",
"transcript_support_level": 5,
"aa_start": 419,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1255,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": "NM_001394928.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "NM_000210.4",
"protein_id": "NP_000201.2",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1138,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": "ENST00000684293.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "ENST00000684293.1",
"protein_id": "ENSP00000508249.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1138,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": "NM_000210.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "ENST00000264107.12",
"protein_id": "ENSP00000264107.8",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 1058,
"cds_start": 1138,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "NM_001079818.3",
"protein_id": "NP_001073286.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1138,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "ENST00000409080.6",
"protein_id": "ENSP00000386896.1",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1138,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Ala375Thr",
"transcript": "ENST00000458358.5",
"protein_id": "ENSP00000394169.1",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "NM_001365529.2",
"protein_id": "NP_001352458.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1138,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "NM_001365530.2",
"protein_id": "NP_001352459.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1058,
"cds_start": 1138,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 5771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "ENST00000715295.1",
"protein_id": "ENSP00000520448.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 977,
"cds_start": 796,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Ala261Thr",
"transcript": "NM_001316306.2",
"protein_id": "NP_001303235.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 954,
"cds_start": 781,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Ala261Thr",
"transcript": "ENST00000409532.5",
"protein_id": "ENSP00000386614.1",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 954,
"cds_start": 781,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "XM_017004005.2",
"protein_id": "XP_016859494.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 977,
"cds_start": 796,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "XM_017004006.2",
"protein_id": "XP_016859495.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 962,
"cds_start": 796,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "XM_047444221.1",
"protein_id": "XP_047300177.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 959,
"cds_start": 796,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "XM_047444222.1",
"protein_id": "XP_047300178.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 944,
"cds_start": 796,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGA6-AS1",
"gene_hgnc_id": 40308,
"hgvs_c": "n.533-10506C>T",
"hgvs_p": null,
"transcript": "ENST00000715602.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITGA6-AS1",
"gene_hgnc_id": 40308,
"hgvs_c": "n.268-10506C>T",
"hgvs_p": null,
"transcript": "ENST00000830320.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDK1-AS1",
"gene_hgnc_id": 40441,
"hgvs_c": "n.519-10506C>T",
"hgvs_p": null,
"transcript": "NR_199651.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDK1-AS1",
"gene_hgnc_id": 40441,
"hgvs_c": "n.704-10506C>T",
"hgvs_p": null,
"transcript": "NR_199652.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDK1-AS1",
"gene_hgnc_id": 40441,
"hgvs_c": "n.519-9059C>T",
"hgvs_p": null,
"transcript": "NR_199653.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDK1-AS1",
"gene_hgnc_id": 40441,
"hgvs_c": "n.519-9059C>T",
"hgvs_p": null,
"transcript": "NR_199654.1",
"protein_id": null,
"transcript_support_level": null,
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{
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{
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}
],
"gene_symbol": "ITGA6",
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"computational_score_selected": 0.0016584992408752441,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.1138,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.205,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000684293.1",
"gene_symbol": "ITGA6",
"hgnc_id": 6142,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_199651.1",
"gene_symbol": "PDK1-AS1",
"hgnc_id": 40441,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.519-10506C>T",
"hgvs_p": null
},
{
"score": -20,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000715602.2",
"gene_symbol": "ITGA6-AS1",
"hgnc_id": 40308,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.533-10506C>T",
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}
],
"clinvar_disease": "Junctional epidermolysis bullosa with pyloric atresia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Junctional epidermolysis bullosa with pyloric atresia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}