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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: 2-218455710-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218455710&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218455710,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020935.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "NM_020935.3",
"protein_id": "NP_065986.3",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 8022,
"mane_select": "ENST00000258399.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020935.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000258399.8",
"protein_id": "ENSP00000258399.3",
"transcript_support_level": 1,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 8022,
"mane_select": "NM_020935.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258399.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000418019.5",
"protein_id": "ENSP00000396585.1",
"transcript_support_level": 1,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418019.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2440A>G",
"hgvs_p": "p.Ile814Val",
"transcript": "ENST00000415516.5",
"protein_id": "ENSP00000400902.1",
"transcript_support_level": 1,
"aa_start": 814,
"aa_end": null,
"aa_length": 885,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415516.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000454775.5",
"protein_id": "ENSP00000393662.1",
"transcript_support_level": 2,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454775.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000864209.1",
"protein_id": "ENSP00000534268.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864209.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000864210.1",
"protein_id": "ENSP00000534269.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864210.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000864211.1",
"protein_id": "ENSP00000534270.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864211.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000864212.1",
"protein_id": "ENSP00000534271.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2897,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864212.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000864213.1",
"protein_id": "ENSP00000534272.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864213.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000864214.1",
"protein_id": "ENSP00000534273.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864214.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val",
"transcript": "ENST00000864215.1",
"protein_id": "ENSP00000534274.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 979,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864215.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2659A>G",
"hgvs_p": "p.Ile887Val",
"transcript": "ENST00000938011.1",
"protein_id": "ENSP00000608070.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 958,
"cds_start": 2659,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938011.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Ile854Val",
"transcript": "ENST00000938009.1",
"protein_id": "ENSP00000608068.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 925,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 7897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938009.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Ile854Val",
"transcript": "ENST00000938010.1",
"protein_id": "ENSP00000608069.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 925,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2920,
"cdna_end": null,
"cdna_length": 7817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938010.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2539A>G",
"hgvs_p": "p.Ile847Val",
"transcript": "ENST00000952647.1",
"protein_id": "ENSP00000622706.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 918,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 7849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952647.1"
}
],
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"dbsnp": "rs138466543",
"frequency_reference_population": 0.0000062072786,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000616912,
"gnomad_genomes_af": 0.00000657315,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46562501788139343,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.4106,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.644,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_020935.3",
"gene_symbol": "USP37",
"hgnc_id": 20063,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Ile908Val"
}
],
"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
}