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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: 16-69133557-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69133557&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69133557,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032830.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "NM_032830.3",
"protein_id": "NP_116219.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 686,
"cds_start": 98,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314423.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032830.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000314423.12",
"protein_id": "ENSP00000327179.7",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 686,
"cds_start": 98,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032830.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314423.12"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000562237.5",
"protein_id": "ENSP00000456709.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 700,
"cds_start": 140,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562237.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000960037.1",
"protein_id": "ENSP00000630096.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 723,
"cds_start": 98,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960037.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916305.1",
"protein_id": "ENSP00000586364.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 694,
"cds_start": 98,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916305.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916297.1",
"protein_id": "ENSP00000586356.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 692,
"cds_start": 98,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916297.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916296.1",
"protein_id": "ENSP00000586355.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 686,
"cds_start": 98,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916296.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916307.1",
"protein_id": "ENSP00000586366.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 686,
"cds_start": 98,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916307.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000861702.1",
"protein_id": "ENSP00000531761.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 684,
"cds_start": 98,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861702.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916306.1",
"protein_id": "ENSP00000586365.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 684,
"cds_start": 98,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916306.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000861707.1",
"protein_id": "ENSP00000531766.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 673,
"cds_start": 98,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861707.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916302.1",
"protein_id": "ENSP00000586361.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 673,
"cds_start": 98,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916302.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000960038.1",
"protein_id": "ENSP00000630097.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 656,
"cds_start": 98,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960038.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000861705.1",
"protein_id": "ENSP00000531764.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 654,
"cds_start": 98,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861705.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916299.1",
"protein_id": "ENSP00000586358.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 652,
"cds_start": 98,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916299.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916298.1",
"protein_id": "ENSP00000586357.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 649,
"cds_start": 98,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916298.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000916303.1",
"protein_id": "ENSP00000586362.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 632,
"cds_start": 98,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916303.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000563094.5",
"protein_id": "ENSP00000456622.1",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 625,
"cds_start": 98,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563094.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000960039.1",
"protein_id": "ENSP00000630098.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 622,
"cds_start": 98,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960039.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000861704.1",
"protein_id": "ENSP00000531763.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 598,
"cds_start": 98,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861704.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000960040.1",
"protein_id": "ENSP00000630099.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 592,
"cds_start": 98,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960040.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.98T>C",
"hgvs_p": "p.Val33Ala",
"transcript": "ENST00000352319.8",
"protein_id": "ENSP00000339164.4",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 571,
"cds_start": 98,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352319.8"
},
{
"aa_ref": "V",
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}