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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: 1-43198547-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43198547&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43198547,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372492.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "NM_001378189.1",
"protein_id": "NP_001365118.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": "ENST00000372492.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "ENST00000372492.9",
"protein_id": "ENSP00000361570.4",
"transcript_support_level": 5,
"aa_start": 443,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": "NM_001378189.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "n.*1228C>A",
"hgvs_p": null,
"transcript": "ENST00000533339.1",
"protein_id": "ENSP00000432547.1",
"transcript_support_level": 1,
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "n.*1228C>A",
"hgvs_p": null,
"transcript": "ENST00000533339.1",
"protein_id": "ENSP00000432547.1",
"transcript_support_level": 1,
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "NM_001195831.3",
"protein_id": "NP_001182760.2",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "ENST00000610710.4",
"protein_id": "ENSP00000479773.1",
"transcript_support_level": 5,
"aa_start": 443,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "NM_001167965.1",
"protein_id": "NP_001161437.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 698,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "NM_152498.3",
"protein_id": "NP_689711.2",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 698,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "ENST00000528956.5",
"protein_id": "ENSP00000435310.1",
"transcript_support_level": 2,
"aa_start": 443,
"aa_end": null,
"aa_length": 698,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_017000422.3",
"protein_id": "XP_016855911.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_011540793.1",
"protein_id": "XP_011539095.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_011540794.2",
"protein_id": "XP_011539096.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_011540795.4",
"protein_id": "XP_011539097.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1296C>A",
"hgvs_p": "p.His432Gln",
"transcript": "XM_006710383.2",
"protein_id": "XP_006710446.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1296,
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"cdna_start": 1563,
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"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1296C>A",
"hgvs_p": "p.His432Gln",
"transcript": "XM_011540796.2",
"protein_id": "XP_011539098.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1296,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1296C>A",
"hgvs_p": "p.His432Gln",
"transcript": "XM_047447331.1",
"protein_id": "XP_047303287.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1296,
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"cdna_start": 1515,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1266C>A",
"hgvs_p": "p.His422Gln",
"transcript": "XM_011540797.3",
"protein_id": "XP_011539099.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 1229,
"cds_start": 1266,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_047447334.1",
"protein_id": "XP_047303290.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_011540798.2",
"protein_id": "XP_011539100.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1179,
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"cdna_start": 1472,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_011540799.2",
"protein_id": "XP_011539101.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1121,
"cds_start": 1329,
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"cdna_start": 1472,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_011540800.3",
"protein_id": "XP_011539102.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1062,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.His443Gln",
"transcript": "XM_047447336.1",
"protein_id": "XP_047303292.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 716,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2320,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EBNA1BP2",
"gene_hgnc_id": 15531,
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}
],
"message": null
}