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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: 1-77697454-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77697454&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77697454,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015017.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2599T>G",
"hgvs_p": "p.Ser867Ala",
"transcript": "NM_201624.3",
"protein_id": "NP_963918.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 911,
"cds_start": 2599,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370794.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201624.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2599T>G",
"hgvs_p": "p.Ser867Ala",
"transcript": "ENST00000370794.7",
"protein_id": "ENSP00000359830.3",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 911,
"cds_start": 2599,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201624.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370794.7"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2692T>G",
"hgvs_p": "p.Ser898Ala",
"transcript": "ENST00000370793.5",
"protein_id": "ENSP00000359829.1",
"transcript_support_level": 1,
"aa_start": 898,
"aa_end": null,
"aa_length": 942,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370793.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2692T>G",
"hgvs_p": "p.Ser898Ala",
"transcript": "NM_015017.5",
"protein_id": "NP_055832.3",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 942,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015017.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2692T>G",
"hgvs_p": "p.Ser898Ala",
"transcript": "ENST00000357428.5",
"protein_id": "ENSP00000350009.1",
"transcript_support_level": 5,
"aa_start": 898,
"aa_end": null,
"aa_length": 942,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357428.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2668T>G",
"hgvs_p": "p.Ser890Ala",
"transcript": "NM_001377430.1",
"protein_id": "NP_001364359.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 934,
"cds_start": 2668,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377430.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2596T>G",
"hgvs_p": "p.Ser866Ala",
"transcript": "ENST00000920219.1",
"protein_id": "ENSP00000590278.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 910,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920219.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2596T>G",
"hgvs_p": "p.Ser866Ala",
"transcript": "ENST00000955732.1",
"protein_id": "ENSP00000625791.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 910,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955732.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2593T>G",
"hgvs_p": "p.Ser865Ala",
"transcript": "ENST00000853335.1",
"protein_id": "ENSP00000523394.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 909,
"cds_start": 2593,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853335.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2575T>G",
"hgvs_p": "p.Ser859Ala",
"transcript": "NM_001377431.1",
"protein_id": "NP_001364360.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 903,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377431.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2575T>G",
"hgvs_p": "p.Ser859Ala",
"transcript": "ENST00000853331.1",
"protein_id": "ENSP00000523390.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 903,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853331.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2575T>G",
"hgvs_p": "p.Ser859Ala",
"transcript": "ENST00000853332.1",
"protein_id": "ENSP00000523391.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 903,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853332.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2575T>G",
"hgvs_p": "p.Ser859Ala",
"transcript": "ENST00000920221.1",
"protein_id": "ENSP00000590280.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 903,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920221.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2569T>G",
"hgvs_p": "p.Ser857Ala",
"transcript": "ENST00000920223.1",
"protein_id": "ENSP00000590282.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 901,
"cds_start": 2569,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920223.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2560T>G",
"hgvs_p": "p.Ser854Ala",
"transcript": "ENST00000955725.1",
"protein_id": "ENSP00000625784.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 898,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955725.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2557T>G",
"hgvs_p": "p.Ser853Ala",
"transcript": "ENST00000955726.1",
"protein_id": "ENSP00000625785.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 897,
"cds_start": 2557,
"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": "ENST00000955726.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2446T>G",
"hgvs_p": "p.Ser816Ala",
"transcript": "ENST00000853330.1",
"protein_id": "ENSP00000523389.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 860,
"cds_start": 2446,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853330.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2446T>G",
"hgvs_p": "p.Ser816Ala",
"transcript": "ENST00000955734.1",
"protein_id": "ENSP00000625793.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 860,
"cds_start": 2446,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955734.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2422T>G",
"hgvs_p": "p.Ser808Ala",
"transcript": "ENST00000920222.1",
"protein_id": "ENSP00000590281.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 852,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920222.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2422T>G",
"hgvs_p": "p.Ser808Ala",
"transcript": "ENST00000955730.1",
"protein_id": "ENSP00000625789.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 852,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955730.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2410T>G",
"hgvs_p": "p.Ser804Ala",
"transcript": "ENST00000920220.1",
"protein_id": "ENSP00000590279.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 848,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920220.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2395T>G",
"hgvs_p": "p.Ser799Ala",
"transcript": "NM_001377433.1",
"protein_id": "NP_001364362.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 843,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}