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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: 2-172487779-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=172487779&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 172487779,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394928.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2413G>T",
"hgvs_p": "p.Asp805Tyr",
"transcript": "NM_001394928.1",
"protein_id": "NP_001381857.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2413,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": "ENST00000442250.6",
"biotype": "protein_coding",
"feature": "NM_001394928.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2413G>T",
"hgvs_p": "p.Asp805Tyr",
"transcript": "ENST00000442250.6",
"protein_id": "ENSP00000406694.1",
"transcript_support_level": 5,
"aa_start": 805,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2413,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": "NM_001394928.1",
"biotype": "protein_coding",
"feature": "ENST00000442250.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2296G>T",
"hgvs_p": "p.Asp766Tyr",
"transcript": "NM_000210.4",
"protein_id": "NP_000201.2",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": "ENST00000684293.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000210.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2296G>T",
"hgvs_p": "p.Asp766Tyr",
"transcript": "ENST00000684293.1",
"protein_id": "ENSP00000508249.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": "NM_000210.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684293.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2296G>T",
"hgvs_p": "p.Asp766Tyr",
"transcript": "ENST00000264107.12",
"protein_id": "ENSP00000264107.8",
"transcript_support_level": 1,
"aa_start": 766,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264107.12"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2296G>T",
"hgvs_p": "p.Asp766Tyr",
"transcript": "NM_001079818.3",
"protein_id": "NP_001073286.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079818.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2296G>T",
"hgvs_p": "p.Asp766Tyr",
"transcript": "ENST00000409080.6",
"protein_id": "ENSP00000386896.1",
"transcript_support_level": 2,
"aa_start": 766,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409080.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2281G>T",
"hgvs_p": "p.Asp761Tyr",
"transcript": "ENST00000458358.5",
"protein_id": "ENSP00000394169.1",
"transcript_support_level": 5,
"aa_start": 761,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458358.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2296G>T",
"hgvs_p": "p.Asp766Tyr",
"transcript": "NM_001365529.2",
"protein_id": "NP_001352458.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365529.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2296G>T",
"hgvs_p": "p.Asp766Tyr",
"transcript": "NM_001365530.2",
"protein_id": "NP_001352459.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365530.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2224G>T",
"hgvs_p": "p.Asp742Tyr",
"transcript": "ENST00000874110.1",
"protein_id": "ENSP00000544169.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2224,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874110.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000874112.1",
"protein_id": "ENSP00000544171.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2164,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874112.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2296G>T",
"hgvs_p": "p.Asp766Tyr",
"transcript": "ENST00000874111.1",
"protein_id": "ENSP00000544170.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874111.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1954G>T",
"hgvs_p": "p.Asp652Tyr",
"transcript": "ENST00000715295.1",
"protein_id": "ENSP00000520448.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 977,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715295.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1960G>T",
"hgvs_p": "p.Asp654Tyr",
"transcript": "ENST00000953156.1",
"protein_id": "ENSP00000623215.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 961,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953156.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Asp647Tyr",
"transcript": "NM_001316306.2",
"protein_id": "NP_001303235.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 954,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316306.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Asp647Tyr",
"transcript": "ENST00000409532.5",
"protein_id": "ENSP00000386614.1",
"transcript_support_level": 2,
"aa_start": 647,
"aa_end": null,
"aa_length": 954,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409532.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1828G>T",
"hgvs_p": "p.Asp610Tyr",
"transcript": "ENST00000874109.1",
"protein_id": "ENSP00000544168.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 917,
"cds_start": 1828,
"cds_end": null,
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"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874109.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1954G>T",
"hgvs_p": "p.Asp652Tyr",
"transcript": "XM_017004005.2",
"protein_id": "XP_016859494.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 977,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004005.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1954G>T",
"hgvs_p": "p.Asp652Tyr",
"transcript": "XM_017004006.2",
"protein_id": "XP_016859495.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 962,
"cds_start": 1954,
"cds_end": null,
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"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004006.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1954G>T",
"hgvs_p": "p.Asp652Tyr",
"transcript": "XM_047444221.1",
"protein_id": "XP_047300177.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 959,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444221.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.1954G>T",
"hgvs_p": "p.Asp652Tyr",
"transcript": "XM_047444222.1",
"protein_id": "XP_047300178.1",
"transcript_support_level": null,
"aa_start": 652,
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}