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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: 12-23536610-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=23536610&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 23536610,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006940.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1831C>G",
"hgvs_p": "p.Arg611Gly",
"transcript": "NM_006940.6",
"protein_id": "NP_008871.3",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 763,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 7076,
"mane_select": "ENST00000451604.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006940.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1831C>G",
"hgvs_p": "p.Arg611Gly",
"transcript": "ENST00000451604.7",
"protein_id": "ENSP00000398273.2",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 763,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 7076,
"mane_select": "NM_006940.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451604.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.673C>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "ENST00000396007.6",
"protein_id": "ENSP00000379328.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 377,
"cds_start": 673,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396007.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1831C>G",
"hgvs_p": "p.Arg611Gly",
"transcript": "ENST00000900854.1",
"protein_id": "ENSP00000570913.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 763,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2560,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900854.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1831C>G",
"hgvs_p": "p.Arg611Gly",
"transcript": "ENST00000900855.1",
"protein_id": "ENSP00000570914.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 763,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900855.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1831C>G",
"hgvs_p": "p.Arg611Gly",
"transcript": "ENST00000943211.1",
"protein_id": "ENSP00000613270.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 763,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943211.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "NM_001261415.3",
"protein_id": "NP_001248344.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 753,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 7028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261415.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "ENST00000545921.5",
"protein_id": "ENSP00000443520.1",
"transcript_support_level": 2,
"aa_start": 601,
"aa_end": null,
"aa_length": 753,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545921.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1792C>G",
"hgvs_p": "p.Arg598Gly",
"transcript": "NM_152989.5",
"protein_id": "NP_694534.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 750,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152989.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Arg576Gly",
"transcript": "NM_001330785.2",
"protein_id": "NP_001317714.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 728,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330785.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Arg576Gly",
"transcript": "ENST00000537393.5",
"protein_id": "ENSP00000439832.1",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 728,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537393.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1687C>G",
"hgvs_p": "p.Arg563Gly",
"transcript": "ENST00000704299.1",
"protein_id": "ENSP00000515823.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 715,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704299.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1468C>G",
"hgvs_p": "p.Arg490Gly",
"transcript": "NM_001261414.3",
"protein_id": "NP_001248343.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 642,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 7135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261414.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1468C>G",
"hgvs_p": "p.Arg490Gly",
"transcript": "ENST00000646273.1",
"protein_id": "ENSP00000493866.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 642,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646273.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.673C>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "NM_178010.4",
"protein_id": "NP_821078.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 377,
"cds_start": 673,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 5883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178010.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.583C>G",
"hgvs_p": "p.Arg195Gly",
"transcript": "ENST00000704296.1",
"protein_id": "ENSP00000515820.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 347,
"cds_start": 583,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704296.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2026C>G",
"hgvs_p": "p.Arg676Gly",
"transcript": "XM_011520832.3",
"protein_id": "XP_011519134.2",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 828,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 7605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520832.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2023C>G",
"hgvs_p": "p.Arg675Gly",
"transcript": "XM_047429451.1",
"protein_id": "XP_047285407.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 827,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 7602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429451.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1921C>G",
"hgvs_p": "p.Arg641Gly",
"transcript": "XM_017019888.2",
"protein_id": "XP_016875377.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 793,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 7500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019888.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Arg640Gly",
"transcript": "XM_017019889.2",
"protein_id": "XP_016875378.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 792,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 7497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019889.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1906C>G",
"hgvs_p": "p.Arg636Gly",
"transcript": "XM_047429452.1",
"protein_id": "XP_047285408.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 788,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 7129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429452.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1903C>G",
"hgvs_p": "p.Arg635Gly",
"transcript": "XM_047429453.1",
"protein_id": "XP_047285409.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 787,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1950,
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}
],
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}