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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: 1-77714760-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77714760&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77714760,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015017.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Lys690Arg",
"transcript": "NM_201624.3",
"protein_id": "NP_963918.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 911,
"cds_start": 2069,
"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": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Lys690Arg",
"transcript": "ENST00000370794.7",
"protein_id": "ENSP00000359830.3",
"transcript_support_level": 1,
"aa_start": 690,
"aa_end": null,
"aa_length": 911,
"cds_start": 2069,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Lys721Arg",
"transcript": "ENST00000370793.5",
"protein_id": "ENSP00000359829.1",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 942,
"cds_start": 2162,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2138A>G",
"hgvs_p": "p.Lys713Arg",
"transcript": "ENST00000370792.7",
"protein_id": "ENSP00000359828.3",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 828,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370792.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Lys721Arg",
"transcript": "NM_015017.5",
"protein_id": "NP_055832.3",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 942,
"cds_start": 2162,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Lys721Arg",
"transcript": "ENST00000357428.5",
"protein_id": "ENSP00000350009.1",
"transcript_support_level": 5,
"aa_start": 721,
"aa_end": null,
"aa_length": 942,
"cds_start": 2162,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2138A>G",
"hgvs_p": "p.Lys713Arg",
"transcript": "NM_001377430.1",
"protein_id": "NP_001364359.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 934,
"cds_start": 2138,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2066A>G",
"hgvs_p": "p.Lys689Arg",
"transcript": "ENST00000920219.1",
"protein_id": "ENSP00000590278.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 910,
"cds_start": 2066,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Lys690Arg",
"transcript": "ENST00000955732.1",
"protein_id": "ENSP00000625791.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 910,
"cds_start": 2069,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Lys690Arg",
"transcript": "ENST00000853335.1",
"protein_id": "ENSP00000523394.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 909,
"cds_start": 2069,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2045A>G",
"hgvs_p": "p.Lys682Arg",
"transcript": "NM_001377431.1",
"protein_id": "NP_001364360.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 903,
"cds_start": 2045,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2045A>G",
"hgvs_p": "p.Lys682Arg",
"transcript": "ENST00000853331.1",
"protein_id": "ENSP00000523390.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 903,
"cds_start": 2045,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2045A>G",
"hgvs_p": "p.Lys682Arg",
"transcript": "ENST00000853332.1",
"protein_id": "ENSP00000523391.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 903,
"cds_start": 2045,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2045A>G",
"hgvs_p": "p.Lys682Arg",
"transcript": "ENST00000920221.1",
"protein_id": "ENSP00000590280.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 903,
"cds_start": 2045,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2045A>G",
"hgvs_p": "p.Lys682Arg",
"transcript": "ENST00000920223.1",
"protein_id": "ENSP00000590282.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 901,
"cds_start": 2045,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2030A>G",
"hgvs_p": "p.Lys677Arg",
"transcript": "ENST00000955725.1",
"protein_id": "ENSP00000625784.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 898,
"cds_start": 2030,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Lys676Arg",
"transcript": "ENST00000955726.1",
"protein_id": "ENSP00000625785.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 897,
"cds_start": 2027,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Lys639Arg",
"transcript": "ENST00000853330.1",
"protein_id": "ENSP00000523389.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 860,
"cds_start": 1916,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Lys639Arg",
"transcript": "ENST00000955734.1",
"protein_id": "ENSP00000625793.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 860,
"cds_start": 1916,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Lys631Arg",
"transcript": "ENST00000920222.1",
"protein_id": "ENSP00000590281.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 852,
"cds_start": 1892,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Lys631Arg",
"transcript": "ENST00000955730.1",
"protein_id": "ENSP00000625789.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 852,
"cds_start": 1892,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Lys721Arg",
"transcript": "NM_001377432.1",
"protein_id": "NP_001364361.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 851,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
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"hgvs_p": "p.Lys721Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}