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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: 18-45901140-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=45901140&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 45901140,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000282041.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "NM_020964.3",
"protein_id": "NP_066015.2",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2579,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 12688,
"mane_select": "ENST00000282041.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "ENST00000282041.11",
"protein_id": "ENSP00000282041.4",
"transcript_support_level": 1,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2579,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 12688,
"mane_select": "NM_020964.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.*242G>A",
"hgvs_p": null,
"transcript": "ENST00000587884.2",
"protein_id": "ENSP00000466990.2",
"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": 12724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.4502G>A",
"hgvs_p": null,
"transcript": "ENST00000590884.6",
"protein_id": "ENSP00000466403.2",
"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": 12259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.4502G>A",
"hgvs_p": null,
"transcript": "ENST00000592272.6",
"protein_id": "ENSP00000467464.2",
"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": 12491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.*242G>A",
"hgvs_p": null,
"transcript": "ENST00000587884.2",
"protein_id": "ENSP00000466990.2",
"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": 12724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "NM_001410859.1",
"protein_id": "NP_001397788.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2578,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 12685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "ENST00000696489.1",
"protein_id": "ENSP00000512660.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2578,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 4502,
"cdna_end": null,
"cdna_length": 12583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "NM_001410858.1",
"protein_id": "NP_001397787.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2544,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7635,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 7957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "ENST00000696483.1",
"protein_id": "ENSP00000512657.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2544,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7635,
"cdna_start": 4590,
"cdna_end": null,
"cdna_length": 7955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "ENST00000696484.1",
"protein_id": "ENSP00000512658.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2492,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7479,
"cdna_start": 4590,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "ENST00000696490.1",
"protein_id": "ENSP00000512661.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2482,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7449,
"cdna_start": 4590,
"cdna_end": null,
"cdna_length": 9473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4529G>A",
"hgvs_p": "p.Arg1510Gln",
"transcript": "XM_047437698.1",
"protein_id": "XP_047293654.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 2598,
"cds_start": 4529,
"cds_end": null,
"cds_length": 7797,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 13484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4529G>A",
"hgvs_p": "p.Arg1510Gln",
"transcript": "XM_047437699.1",
"protein_id": "XP_047293655.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 2597,
"cds_start": 4529,
"cds_end": null,
"cds_length": 7794,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 13481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "XM_011526122.2",
"protein_id": "XP_011524424.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2589,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7770,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 13457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "XM_017025889.2",
"protein_id": "XP_016881378.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2588,
"cds_start": 4502,
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"cdna_start": 4592,
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"cdna_length": 13454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4529G>A",
"hgvs_p": "p.Arg1510Gln",
"transcript": "XM_047437700.1",
"protein_id": "XP_047293656.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 2588,
"cds_start": 4529,
"cds_end": null,
"cds_length": 7767,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 12715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4529G>A",
"hgvs_p": "p.Arg1510Gln",
"transcript": "XM_047437701.1",
"protein_id": "XP_047293657.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 2587,
"cds_start": 4529,
"cds_end": null,
"cds_length": 7764,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 12712,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4529G>A",
"hgvs_p": "p.Arg1510Gln",
"transcript": "XM_047437703.1",
"protein_id": "XP_047293659.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 2553,
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"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4529G>A",
"hgvs_p": "p.Arg1510Gln",
"transcript": "XM_047437704.1",
"protein_id": "XP_047293660.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 2552,
"cds_start": 4529,
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"cds_length": 7659,
"cdna_start": 4619,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4388G>A",
"hgvs_p": "p.Arg1463Gln",
"transcript": "XM_047437705.1",
"protein_id": "XP_047293661.1",
"transcript_support_level": null,
"aa_start": 1463,
"aa_end": null,
"aa_length": 2551,
"cds_start": 4388,
"cds_end": null,
"cds_length": 7656,
"cdna_start": 4478,
"cdna_end": null,
"cdna_length": 13343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.4502G>A",
"hgvs_p": "p.Arg1501Gln",
"transcript": "XM_047437706.1",
"protein_id": "XP_047293662.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2543,
"cds_start": 4502,
"cds_end": null,
"cds_length": 7632,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 7954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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}
],
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}