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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: 16-8963224-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8963224&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 8963224,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003470.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"transcript": "NM_003470.3",
"protein_id": "NP_003461.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1102,
"cds_start": 62,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344836.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003470.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"transcript": "ENST00000344836.9",
"protein_id": "ENSP00000343535.4",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 1102,
"cds_start": 62,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003470.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344836.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"transcript": "ENST00000923082.1",
"protein_id": "ENSP00000593141.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1114,
"cds_start": 62,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923082.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"transcript": "ENST00000923081.1",
"protein_id": "ENSP00000593140.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1112,
"cds_start": 62,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923081.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"transcript": "ENST00000923079.1",
"protein_id": "ENSP00000593138.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1101,
"cds_start": 62,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923079.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"transcript": "ENST00000923078.1",
"protein_id": "ENSP00000593137.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1100,
"cds_start": 62,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923078.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"transcript": "ENST00000969523.1",
"protein_id": "ENSP00000639582.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1078,
"cds_start": 62,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969523.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"transcript": "ENST00000923080.1",
"protein_id": "ENSP00000593139.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1067,
"cds_start": 62,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.184+11870A>G",
"hgvs_p": null,
"transcript": "ENST00000673704.1",
"protein_id": "ENSP00000501290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1137,
"cds_start": null,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.-96+1170A>G",
"hgvs_p": null,
"transcript": "ENST00000569230.5",
"protein_id": "ENSP00000457237.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569230.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "n.62A>G",
"hgvs_p": null,
"transcript": "ENST00000563961.5",
"protein_id": "ENSP00000454362.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563961.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP7-AS1",
"gene_hgnc_id": 55379,
"hgvs_c": "n.288+330T>C",
"hgvs_p": null,
"transcript": "ENST00000564485.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000564485.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP7-AS1",
"gene_hgnc_id": 55379,
"hgvs_c": "n.120+957T>C",
"hgvs_p": null,
"transcript": "ENST00000778052.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000778052.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP7-AS1",
"gene_hgnc_id": 55379,
"hgvs_c": "n.65+438T>C",
"hgvs_p": null,
"transcript": "ENST00000778053.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000778053.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP7-AS1",
"gene_hgnc_id": 55379,
"hgvs_c": "n.173+330T>C",
"hgvs_p": null,
"transcript": "ENST00000778054.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000778054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP7-AS1",
"gene_hgnc_id": 55379,
"hgvs_c": "n.182+330T>C",
"hgvs_p": null,
"transcript": "NR_184341.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_184341.1"
}
],
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"dbsnp": "rs919912952",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1614772081375122,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.6667,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.247,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003470.3",
"gene_symbol": "USP7",
"hgnc_id": 12630,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000564485.2",
"gene_symbol": "USP7-AS1",
"hgnc_id": 55379,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.288+330T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}