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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: 15-90935328-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90935328&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90935328,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018671.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "NM_018671.5",
"protein_id": "NP_061141.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 944,
"cds_start": 4,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000418476.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018671.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000418476.2",
"protein_id": "ENSP00000407487.2",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 944,
"cds_start": 4,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018671.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418476.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000936141.1",
"protein_id": "ENSP00000606200.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 973,
"cds_start": 4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936141.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895398.1",
"protein_id": "ENSP00000565457.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 951,
"cds_start": 4,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895398.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000971442.1",
"protein_id": "ENSP00000641501.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 950,
"cds_start": 4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971442.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895394.1",
"protein_id": "ENSP00000565453.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 946,
"cds_start": 4,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895394.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "NM_001323619.1",
"protein_id": "NP_001310548.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 944,
"cds_start": 4,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323619.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895391.1",
"protein_id": "ENSP00000565450.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 943,
"cds_start": 4,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895391.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000971438.1",
"protein_id": "ENSP00000641497.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 913,
"cds_start": 4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971438.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000936142.1",
"protein_id": "ENSP00000606201.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 897,
"cds_start": 4,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936142.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895390.1",
"protein_id": "ENSP00000565449.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 818,
"cds_start": 4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895390.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "XM_047432844.1",
"protein_id": "XP_047288800.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 944,
"cds_start": 4,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432844.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000971439.1",
"protein_id": "ENSP00000641498.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 952,
"cds_start": 4,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971439.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000971437.1",
"protein_id": "ENSP00000641496.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 951,
"cds_start": 4,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971437.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895397.1",
"protein_id": "ENSP00000565456.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 944,
"cds_start": 4,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895397.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000971440.1",
"protein_id": "ENSP00000641499.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 940,
"cds_start": 4,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971440.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895388.1",
"protein_id": "ENSP00000565447.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 939,
"cds_start": 4,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895388.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895393.1",
"protein_id": "ENSP00000565452.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 936,
"cds_start": 4,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895393.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895396.1",
"protein_id": "ENSP00000565455.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 935,
"cds_start": 4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895396.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "ENST00000895389.1",
"protein_id": "ENSP00000565448.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 931,
"cds_start": 4,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895389.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "NM_001039675.2",
"protein_id": "NP_001034764.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 929,
"cds_start": 4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039675.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.4A>G",
"hgvs_p": "p.Thr2Ala",
"transcript": "NM_001323621.2",
"protein_id": "NP_001310550.1",
"transcript_support_level": null,
"aa_start": 2,
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{
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],
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"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}