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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: 20-18162773-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18162773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 18162773,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000688188.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "NM_001392073.1",
"protein_id": "NP_001379002.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 781,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": "ENST00000688188.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "ENST00000688188.1",
"protein_id": "ENSP00000508684.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 781,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": "NM_001392073.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000435364.8",
"protein_id": "ENSP00000392318.2",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Ala372Val",
"transcript": "ENST00000489634.2",
"protein_id": "ENSP00000425909.2",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 654,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "NM_001384192.3",
"protein_id": "NP_001371121.2",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "NM_001392069.1",
"protein_id": "NP_001378998.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "NM_001392070.1",
"protein_id": "NP_001378999.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "NM_001392071.1",
"protein_id": "NP_001379000.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "NM_001392072.1",
"protein_id": "NP_001379001.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "NM_020536.7",
"protein_id": "NP_065397.4",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000377681.8",
"protein_id": "ENSP00000366909.3",
"transcript_support_level": 5,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000464792.2",
"protein_id": "ENSP00000424752.2",
"transcript_support_level": 2,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000676935.1",
"protein_id": "ENSP00000503493.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
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"cds_length": 2349,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000677174.1",
"protein_id": "ENSP00000503109.1",
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"cdna_start": 2329,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000677266.1",
"protein_id": "ENSP00000504050.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 782,
"cds_start": 1499,
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"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000678772.1",
"protein_id": "ENSP00000504276.1",
"transcript_support_level": null,
"aa_start": 500,
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"cdna_start": 2220,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "NM_001392074.1",
"protein_id": "NP_001379003.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 781,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "NM_001392075.1",
"protein_id": "NP_001379004.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 781,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2016,
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"cdna_length": 3442,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "NM_001392076.1",
"protein_id": "NP_001379005.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1496,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "NM_001392077.1",
"protein_id": "NP_001379006.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
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"cds_start": 1496,
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"cdna_start": 2007,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "NM_001392078.1",
"protein_id": "NP_001379007.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 781,
"cds_start": 1496,
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"cdna_start": 2056,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "ENST00000677610.1",
"protein_id": "ENSP00000504748.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 781,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT14",
"gene_hgnc_id": 15904,
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}
],
"message": null
}