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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: 1-227029074-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=227029074&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 227029074,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000366766.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4015G>T",
"hgvs_p": "p.Val1339Leu",
"transcript": "NM_001394014.1",
"protein_id": "NP_001380943.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4015,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 5325,
"cdna_end": null,
"cdna_length": 10978,
"mane_select": "ENST00000366766.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4015G>T",
"hgvs_p": "p.Val1339Leu",
"transcript": "ENST00000366766.8",
"protein_id": "ENSP00000355728.5",
"transcript_support_level": 5,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4015,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 5325,
"cdna_end": null,
"cdna_length": 10978,
"mane_select": "NM_001394014.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3910G>T",
"hgvs_p": "p.Val1304Leu",
"transcript": "ENST00000366769.7",
"protein_id": "ENSP00000355731.3",
"transcript_support_level": 1,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1719,
"cds_start": 3910,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 5202,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3850G>T",
"hgvs_p": "p.Val1284Leu",
"transcript": "ENST00000366764.8",
"protein_id": "ENSP00000355726.5",
"transcript_support_level": 1,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1699,
"cds_start": 3850,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 3877,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3667G>T",
"hgvs_p": "p.Val1223Leu",
"transcript": "ENST00000366767.7",
"protein_id": "ENSP00000355729.3",
"transcript_support_level": 1,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1638,
"cds_start": 3667,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 9320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.1894G>T",
"hgvs_p": "p.Val632Leu",
"transcript": "ENST00000442054.5",
"protein_id": "ENSP00000401051.1",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1894,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.1516G>T",
"hgvs_p": "p.Val506Leu",
"transcript": "ENST00000448940.5",
"protein_id": "ENSP00000415388.1",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 983,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 7355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4102G>T",
"hgvs_p": "p.Val1368Leu",
"transcript": "NM_001387550.1",
"protein_id": "NP_001374479.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1845,
"cds_start": 4102,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 5412,
"cdna_end": null,
"cdna_length": 11251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3949G>T",
"hgvs_p": "p.Val1317Leu",
"transcript": "NM_001366019.2",
"protein_id": "NP_001352948.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1732,
"cds_start": 3949,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5259,
"cdna_end": null,
"cdna_length": 10912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3949G>T",
"hgvs_p": "p.Val1317Leu",
"transcript": "ENST00000334218.9",
"protein_id": "ENSP00000335341.6",
"transcript_support_level": 5,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1732,
"cds_start": 3949,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 4481,
"cdna_end": null,
"cdna_length": 10134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3910G>T",
"hgvs_p": "p.Val1304Leu",
"transcript": "NM_003607.4",
"protein_id": "NP_003598.2",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1719,
"cds_start": 3910,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 5220,
"cdna_end": null,
"cdna_length": 10873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3850G>T",
"hgvs_p": "p.Val1284Leu",
"transcript": "NM_001366011.1",
"protein_id": "NP_001352940.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1699,
"cds_start": 3850,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 5160,
"cdna_end": null,
"cdna_length": 10820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3826G>T",
"hgvs_p": "p.Val1276Leu",
"transcript": "NM_001366010.2",
"protein_id": "NP_001352939.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1691,
"cds_start": 3826,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 5136,
"cdna_end": null,
"cdna_length": 10789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3667G>T",
"hgvs_p": "p.Val1223Leu",
"transcript": "NM_014826.5",
"protein_id": "NP_055641.3",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1638,
"cds_start": 3667,
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"cdna_start": 4977,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.1582G>T",
"hgvs_p": "p.Val528Leu",
"transcript": "ENST00000441725.1",
"protein_id": "ENSP00000509872.1",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 726,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2182,
"cdna_start": 1583,
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"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.601G>T",
"hgvs_p": "p.Val201Leu",
"transcript": "ENST00000429440.5",
"protein_id": "ENSP00000407120.1",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 545,
"cds_start": 601,
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"cdna_start": 602,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4063G>T",
"hgvs_p": "p.Val1355Leu",
"transcript": "XM_005273317.5",
"protein_id": "XP_005273374.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4063,
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"cds_length": 5499,
"cdna_start": 5373,
"cdna_end": null,
"cdna_length": 11212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4054G>T",
"hgvs_p": "p.Val1352Leu",
"transcript": "XM_005273318.5",
"protein_id": "XP_005273375.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1829,
"cds_start": 4054,
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"cdna_start": 5364,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4015G>T",
"hgvs_p": "p.Val1339Leu",
"transcript": "XM_006711834.5",
"protein_id": "XP_006711897.1",
"transcript_support_level": null,
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"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3997G>T",
"hgvs_p": "p.Val1333Leu",
"transcript": "XM_011544307.4",
"protein_id": "XP_011542609.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1810,
"cds_start": 3997,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3958G>T",
"hgvs_p": "p.Val1320Leu",
"transcript": "XM_006711835.5",
"protein_id": "XP_006711898.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1797,
"cds_start": 3958,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 5268,
"cdna_end": null,
"cdna_length": 11107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3949G>T",
"hgvs_p": "p.Val1317Leu",
"transcript": "XM_005273320.5",
"protein_id": "XP_005273377.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1794,
"cds_start": 3949,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 5259,
"cdna_end": null,
"cdna_length": 11098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
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