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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: 16-8894529-C-CGGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8894529&ref=C&alt=CGGGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 8894529,
"ref": "C",
"alt": "CGGGG",
"effect": "intron_variant",
"transcript": "NM_003470.3",
"consequences": [
{
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3202+17_3202+20dupCCCC",
"hgvs_p": null,
"transcript": "NM_003470.3",
"protein_id": "NP_003461.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1102,
"cds_start": null,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": "ENST00000344836.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003470.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3202+20_3202+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000344836.9",
"protein_id": "ENSP00000343535.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1102,
"cds_start": null,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": "NM_003470.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344836.9"
},
{
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3154+20_3154+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000381886.8",
"protein_id": "ENSP00000371310.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381886.8"
},
{
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3307+20_3307+21insCCCC",
"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": 5366,
"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": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3238+20_3238+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000923082.1",
"protein_id": "ENSP00000593141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": null,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923082.1"
},
{
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3232+20_3232+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000923081.1",
"protein_id": "ENSP00000593140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1112,
"cds_start": null,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923081.1"
},
{
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3199+20_3199+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000923079.1",
"protein_id": "ENSP00000593138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1101,
"cds_start": null,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923079.1"
},
{
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3196+20_3196+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000923078.1",
"protein_id": "ENSP00000593137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": null,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923078.1"
},
{
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3154+17_3154+20dupCCCC",
"hgvs_p": null,
"transcript": "NM_001286457.2",
"protein_id": "NP_001273386.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286457.2"
},
{
"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": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3130+20_3130+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000969523.1",
"protein_id": "ENSP00000639582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": null,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969523.1"
},
{
"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": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3097+20_3097+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000923080.1",
"protein_id": "ENSP00000593139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": null,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5082,
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3028+17_3028+20dupCCCC",
"hgvs_p": null,
"transcript": "NM_001321858.2",
"protein_id": "NP_001308787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1044,
"cds_start": null,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321858.2"
},
{
"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": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.2905+17_2905+20dupCCCC",
"hgvs_p": null,
"transcript": "NM_001286458.2",
"protein_id": "NP_001273387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1003,
"cds_start": null,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286458.2"
},
{
"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": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "c.3028+17_3028+20dupCCCC",
"hgvs_p": null,
"transcript": "XM_047434605.1",
"protein_id": "XP_047290561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1044,
"cds_start": null,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "n.*2787+20_*2787+21insCCCC",
"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": 4533,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "n.*3185+20_*3185+21insCCCC",
"hgvs_p": null,
"transcript": "ENST00000565455.5",
"protein_id": "ENSP00000456258.1",
"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": 3554,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565455.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"hgvs_c": "n.3183+17_3183+20dupCCCC",
"hgvs_p": null,
"transcript": "NR_135826.2",
"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": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135826.2"
}
],
"gene_symbol": "USP7",
"gene_hgnc_id": 12630,
"dbsnp": "rs3214650",
"frequency_reference_population": 0.0000014958393,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000149584,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -3.211,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_003470.3",
"gene_symbol": "USP7",
"hgnc_id": 12630,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3202+17_3202+20dupCCCC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}