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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: 1-226994332-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226994332&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226994332,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001387550.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5201C>T",
"hgvs_p": "p.Ala1734Val",
"transcript": "NM_001394014.1",
"protein_id": "NP_001380943.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1754,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366766.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394014.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5201C>T",
"hgvs_p": "p.Ala1734Val",
"transcript": "ENST00000366766.8",
"protein_id": "ENSP00000355728.5",
"transcript_support_level": 5,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1754,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394014.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366766.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5096C>T",
"hgvs_p": "p.Ala1699Val",
"transcript": "ENST00000366769.7",
"protein_id": "ENSP00000355731.3",
"transcript_support_level": 1,
"aa_start": 1699,
"aa_end": null,
"aa_length": 1719,
"cds_start": 5096,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366769.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5036C>T",
"hgvs_p": "p.Ala1679Val",
"transcript": "ENST00000366764.8",
"protein_id": "ENSP00000355726.5",
"transcript_support_level": 1,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1699,
"cds_start": 5036,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366764.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4853C>T",
"hgvs_p": "p.Ala1618Val",
"transcript": "ENST00000366767.7",
"protein_id": "ENSP00000355729.3",
"transcript_support_level": 1,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4853,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366767.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.3080C>T",
"hgvs_p": "p.Ala1027Val",
"transcript": "ENST00000442054.5",
"protein_id": "ENSP00000401051.1",
"transcript_support_level": 1,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3080,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442054.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2888C>T",
"hgvs_p": "p.Ala963Val",
"transcript": "ENST00000448940.5",
"protein_id": "ENSP00000415388.1",
"transcript_support_level": 1,
"aa_start": 963,
"aa_end": null,
"aa_length": 983,
"cds_start": 2888,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448940.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5474C>T",
"hgvs_p": "p.Ala1825Val",
"transcript": "NM_001387550.1",
"protein_id": "NP_001374479.1",
"transcript_support_level": null,
"aa_start": 1825,
"aa_end": null,
"aa_length": 1845,
"cds_start": 5474,
"cds_end": null,
"cds_length": 5538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387550.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5330C>T",
"hgvs_p": "p.Ala1777Val",
"transcript": "ENST00000963198.1",
"protein_id": "ENSP00000633257.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 1797,
"cds_start": 5330,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963198.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5321C>T",
"hgvs_p": "p.Ala1774Val",
"transcript": "ENST00000963196.1",
"protein_id": "ENSP00000633255.1",
"transcript_support_level": null,
"aa_start": 1774,
"aa_end": null,
"aa_length": 1794,
"cds_start": 5321,
"cds_end": null,
"cds_length": 5385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963196.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5144C>T",
"hgvs_p": "p.Ala1715Val",
"transcript": "ENST00000963197.1",
"protein_id": "ENSP00000633256.1",
"transcript_support_level": null,
"aa_start": 1715,
"aa_end": null,
"aa_length": 1735,
"cds_start": 5144,
"cds_end": null,
"cds_length": 5208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963197.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"transcript": "NM_001366019.2",
"protein_id": "NP_001352948.1",
"transcript_support_level": null,
"aa_start": 1712,
"aa_end": null,
"aa_length": 1732,
"cds_start": 5135,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366019.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"transcript": "ENST00000334218.9",
"protein_id": "ENSP00000335341.6",
"transcript_support_level": 5,
"aa_start": 1712,
"aa_end": null,
"aa_length": 1732,
"cds_start": 5135,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334218.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5096C>T",
"hgvs_p": "p.Ala1699Val",
"transcript": "NM_003607.4",
"protein_id": "NP_003598.2",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 1719,
"cds_start": 5096,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003607.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5036C>T",
"hgvs_p": "p.Ala1679Val",
"transcript": "NM_001366011.1",
"protein_id": "NP_001352940.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1699,
"cds_start": 5036,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366011.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5012C>T",
"hgvs_p": "p.Ala1671Val",
"transcript": "NM_001366010.2",
"protein_id": "NP_001352939.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1691,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366010.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.4853C>T",
"hgvs_p": "p.Ala1618Val",
"transcript": "NM_014826.5",
"protein_id": "NP_055641.3",
"transcript_support_level": null,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4853,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014826.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5435C>T",
"hgvs_p": "p.Ala1812Val",
"transcript": "XM_005273317.5",
"protein_id": "XP_005273374.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5435,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273317.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5426C>T",
"hgvs_p": "p.Ala1809Val",
"transcript": "XM_005273318.5",
"protein_id": "XP_005273375.1",
"transcript_support_level": null,
"aa_start": 1809,
"aa_end": null,
"aa_length": 1829,
"cds_start": 5426,
"cds_end": null,
"cds_length": 5490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273318.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5387C>T",
"hgvs_p": "p.Ala1796Val",
"transcript": "XM_006711834.5",
"protein_id": "XP_006711897.1",
"transcript_support_level": null,
"aa_start": 1796,
"aa_end": null,
"aa_length": 1816,
"cds_start": 5387,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711834.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5369C>T",
"hgvs_p": "p.Ala1790Val",
"transcript": "XM_011544307.4",
"protein_id": "XP_011542609.1",
"transcript_support_level": null,
"aa_start": 1790,
"aa_end": null,
"aa_length": 1810,
"cds_start": 5369,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544307.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.5330C>T",
"hgvs_p": "p.Ala1777Val",
"transcript": "XM_006711835.5",
"protein_id": "XP_006711898.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
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}