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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: 4-122359705-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=122359705&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 122359705,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000679879.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15048T>C",
"hgvs_p": "p.His5016His",
"transcript": "NM_001384125.1",
"protein_id": "NP_001371054.1",
"transcript_support_level": null,
"aa_start": 5016,
"aa_end": null,
"aa_length": 5093,
"cds_start": 15048,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 15423,
"cdna_end": null,
"cdna_length": 16162,
"mane_select": "ENST00000679879.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15048T>C",
"hgvs_p": "p.His5016His",
"transcript": "ENST00000679879.1",
"protein_id": "ENSP00000505357.1",
"transcript_support_level": null,
"aa_start": 5016,
"aa_end": null,
"aa_length": 5093,
"cds_start": 15048,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 15423,
"cdna_end": null,
"cdna_length": 16162,
"mane_select": "NM_001384125.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.14439T>C",
"hgvs_p": "p.His4813His",
"transcript": "ENST00000388738.8",
"protein_id": "ENSP00000373390.4",
"transcript_support_level": 1,
"aa_start": 4813,
"aa_end": null,
"aa_length": 4890,
"cds_start": 14439,
"cds_end": null,
"cds_length": 14673,
"cdna_start": 14762,
"cdna_end": null,
"cdna_length": 15456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3909T>C",
"hgvs_p": "p.His1303His",
"transcript": "ENST00000306802.8",
"protein_id": "ENSP00000304374.4",
"transcript_support_level": 1,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1380,
"cds_start": 3909,
"cds_end": null,
"cds_length": 4143,
"cdna_start": 3911,
"cdna_end": null,
"cdna_length": 4650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.14784T>C",
"hgvs_p": "p.His4928His",
"transcript": "NM_015312.4",
"protein_id": "NP_056127.2",
"transcript_support_level": null,
"aa_start": 4928,
"aa_end": null,
"aa_length": 5005,
"cds_start": 14784,
"cds_end": null,
"cds_length": 15018,
"cdna_start": 14829,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.14784T>C",
"hgvs_p": "p.His4928His",
"transcript": "ENST00000264501.8",
"protein_id": "ENSP00000264501.4",
"transcript_support_level": 5,
"aa_start": 4928,
"aa_end": null,
"aa_length": 5005,
"cds_start": 14784,
"cds_end": null,
"cds_length": 15018,
"cdna_start": 15157,
"cdna_end": null,
"cdna_length": 15896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.5412T>C",
"hgvs_p": "p.His1804His",
"transcript": "ENST00000686836.1",
"protein_id": "ENSP00000510157.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 1881,
"cds_start": 5412,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 5412,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.4791T>C",
"hgvs_p": "p.His1597His",
"transcript": "ENST00000438707.5",
"protein_id": "ENSP00000410874.1",
"transcript_support_level": 5,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1674,
"cds_start": 4791,
"cds_end": null,
"cds_length": 5025,
"cdna_start": 4791,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15048T>C",
"hgvs_p": "p.His5016His",
"transcript": "XM_011532320.4",
"protein_id": "XP_011530622.1",
"transcript_support_level": null,
"aa_start": 5016,
"aa_end": null,
"aa_length": 5093,
"cds_start": 15048,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 15532,
"cdna_end": null,
"cdna_length": 16271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15048T>C",
"hgvs_p": "p.His5016His",
"transcript": "XM_047416251.1",
"protein_id": "XP_047272207.1",
"transcript_support_level": null,
"aa_start": 5016,
"aa_end": null,
"aa_length": 5093,
"cds_start": 15048,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 15448,
"cdna_end": null,
"cdna_length": 16187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15048T>C",
"hgvs_p": "p.His5016His",
"transcript": "XM_047416252.1",
"protein_id": "XP_047272208.1",
"transcript_support_level": null,
"aa_start": 5016,
"aa_end": null,
"aa_length": 5093,
"cds_start": 15048,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 15583,
"cdna_end": null,
"cdna_length": 16322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15048T>C",
"hgvs_p": "p.His5016His",
"transcript": "XM_047416253.1",
"protein_id": "XP_047272209.1",
"transcript_support_level": null,
"aa_start": 5016,
"aa_end": null,
"aa_length": 5093,
"cds_start": 15048,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 15496,
"cdna_end": null,
"cdna_length": 16235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15048T>C",
"hgvs_p": "p.His5016His",
"transcript": "XM_047416254.1",
"protein_id": "XP_047272210.1",
"transcript_support_level": null,
"aa_start": 5016,
"aa_end": null,
"aa_length": 5093,
"cds_start": 15048,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 16115,
"cdna_end": null,
"cdna_length": 16854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15045T>C",
"hgvs_p": "p.His5015His",
"transcript": "XM_011532322.2",
"protein_id": "XP_011530624.1",
"transcript_support_level": null,
"aa_start": 5015,
"aa_end": null,
"aa_length": 5092,
"cds_start": 15045,
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"cdna_start": 15420,
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"cdna_length": 16159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15045T>C",
"hgvs_p": "p.His5015His",
"transcript": "XM_047416255.1",
"protein_id": "XP_047272211.1",
"transcript_support_level": null,
"aa_start": 5015,
"aa_end": null,
"aa_length": 5092,
"cds_start": 15045,
"cds_end": null,
"cds_length": 15279,
"cdna_start": 15689,
"cdna_end": null,
"cdna_length": 16428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15045T>C",
"hgvs_p": "p.His5015His",
"transcript": "XM_047416256.1",
"protein_id": "XP_047272212.1",
"transcript_support_level": null,
"aa_start": 5015,
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"cdna_start": 15580,
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"cdna_length": 16319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15045T>C",
"hgvs_p": "p.His5015His",
"transcript": "XM_047416257.1",
"protein_id": "XP_047272213.1",
"transcript_support_level": null,
"aa_start": 5015,
"aa_end": null,
"aa_length": 5092,
"cds_start": 15045,
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"cdna_start": 15445,
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"cdna_length": 16184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.15045T>C",
"hgvs_p": "p.His5015His",
"transcript": "XM_047416258.1",
"protein_id": "XP_047272214.1",
"transcript_support_level": null,
"aa_start": 5015,
"aa_end": null,
"aa_length": 5092,
"cds_start": 15045,
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"cdna_start": 15493,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.14997T>C",
"hgvs_p": "p.His4999His",
"transcript": "XM_011532323.2",
"protein_id": "XP_011530625.1",
"transcript_support_level": null,
"aa_start": 4999,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.14985T>C",
"hgvs_p": "p.His4995His",
"transcript": "XM_011532324.2",
"protein_id": "XP_011530626.1",
"transcript_support_level": null,
"aa_start": 4995,
"aa_end": null,
"aa_length": 5072,
"cds_start": 14985,
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"cdna_start": 15360,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.14943T>C",
"hgvs_p": "p.His4981His",
"transcript": "XM_011532325.2",
"protein_id": "XP_011530627.1",
"transcript_support_level": null,
"aa_start": 4981,
"aa_end": null,
"aa_length": 5058,
"cds_start": 14943,
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"cdna_start": 15318,
"cdna_end": null,
"cdna_length": 16057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.14919T>C",
"hgvs_p": "p.His4973His",
"transcript": "XM_011532326.2",
"protein_id": "XP_011530628.1",
"transcript_support_level": null,
"aa_start": 4973,
"aa_end": null,
"aa_length": 5050,
"cds_start": 14919,
"cds_end": null,
"cds_length": 15153,
"cdna_start": 15294,
"cdna_end": null,
"cdna_length": 16033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
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"phenotype_combined": "not provided",
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}
],
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}