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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: 20-44406092-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44406092&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44406092,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000316673.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Ala28Ala",
"transcript": "NM_175914.5",
"protein_id": "NP_787110.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 452,
"cds_start": 84,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": "ENST00000316673.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Ala28Ala",
"transcript": "ENST00000316673.9",
"protein_id": "ENSP00000315180.4",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 452,
"cds_start": 84,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": "NM_175914.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.150G>T",
"hgvs_p": "p.Ala50Ala",
"transcript": "ENST00000316099.10",
"protein_id": "ENSP00000312987.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 474,
"cds_start": 150,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.150G>T",
"hgvs_p": "p.Ala50Ala",
"transcript": "ENST00000415691.2",
"protein_id": "ENSP00000412111.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 464,
"cds_start": 150,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Ala28Ala",
"transcript": "ENST00000457232.5",
"protein_id": "ENSP00000396216.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 442,
"cds_start": 84,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.150G>T",
"hgvs_p": "p.Ala50Ala",
"transcript": "ENST00000443598.6",
"protein_id": "ENSP00000410911.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 417,
"cds_start": 150,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Ala28Ala",
"transcript": "ENST00000609795.5",
"protein_id": "ENSP00000476609.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 395,
"cds_start": 84,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.75G>T",
"hgvs_p": "p.Ala25Ala",
"transcript": "ENST00000609262.5",
"protein_id": "ENSP00000476310.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 102,
"cds_start": 75,
"cds_end": null,
"cds_length": 309,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "n.241G>T",
"hgvs_p": null,
"transcript": "ENST00000372920.1",
"protein_id": "ENSP00000362011.1",
"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": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.107G>T",
"hgvs_p": "p.Arg36Leu",
"transcript": "ENST00000684476.1",
"protein_id": "ENSP00000507529.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 110,
"cds_start": 107,
"cds_end": null,
"cds_length": 333,
"cdna_start": 107,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.101G>T",
"hgvs_p": "p.Arg34Leu",
"transcript": "ENST00000682169.1",
"protein_id": "ENSP00000507346.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 108,
"cds_start": 101,
"cds_end": null,
"cds_length": 327,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.150G>T",
"hgvs_p": "p.Ala50Ala",
"transcript": "NM_000457.6",
"protein_id": "NP_000448.3",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 474,
"cds_start": 150,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.129G>T",
"hgvs_p": "p.Ala43Ala",
"transcript": "NM_001258355.2",
"protein_id": "NP_001245284.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 467,
"cds_start": 129,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.150G>T",
"hgvs_p": "p.Ala50Ala",
"transcript": "NM_178849.3",
"protein_id": "NP_849180.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 464,
"cds_start": 150,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 6460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.75G>T",
"hgvs_p": "p.Ala25Ala",
"transcript": "NM_001287183.2",
"protein_id": "NP_001274112.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 449,
"cds_start": 75,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Ala28Ala",
"transcript": "NM_001030003.3",
"protein_id": "NP_001025174.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 442,
"cds_start": 84,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 6366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.75G>T",
"hgvs_p": "p.Ala25Ala",
"transcript": "NM_001287182.2",
"protein_id": "NP_001274111.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 439,
"cds_start": 75,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.150G>T",
"hgvs_p": "p.Ala50Ala",
"transcript": "NM_178850.3",
"protein_id": "NP_849181.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 417,
"cds_start": 150,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.84G>T",
"hgvs_p": "p.Ala28Ala",
"transcript": "NM_001030004.3",
"protein_id": "NP_001025175.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 395,
"cds_start": 84,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.75G>T",
"hgvs_p": "p.Ala25Ala",
"transcript": "NM_001287184.2",
"protein_id": "NP_001274113.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 392,
"cds_start": 75,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.123G>T",
"hgvs_p": "p.Ala41Ala",
"transcript": "ENST00000619550.5",
"protein_id": "ENSP00000481331.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 376,
"cds_start": 123,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.126G>T",
"hgvs_p": "p.Ala42Ala",
"transcript": "ENST00000681977.1",
"protein_id": "ENSP00000507189.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 150,
"cds_start": 126,
"cds_end": null,
"cds_length": 453,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.126G>T",
"hgvs_p": "p.Ala42Ala",
"transcript": "ENST00000684046.1",
"protein_id": "ENSP00000507555.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
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{
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"clinvar_disease": "",
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}
],
"message": null
}