← Back to variant description
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: 2-218466065-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218466065&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP37",
"hgnc_id": 20063,
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_020935.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.2568,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09051704406738281,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8022,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_020935.3",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258399.8",
"protein_coding": true,
"protein_id": "NP_065986.3",
"strand": false,
"transcript": "NM_020935.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8022,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000258399.8",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020935.3",
"protein_coding": true,
"protein_id": "ENSP00000258399.3",
"strand": false,
"transcript": "ENST00000258399.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 2709,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000418019.5",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396585.1",
"strand": false,
"transcript": "ENST00000418019.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 885,
"aa_ref": "R",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 2558,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000415516.5",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Arg710His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400902.1",
"strand": false,
"transcript": "ENST00000415516.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000454775.5",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393662.1",
"strand": false,
"transcript": "ENST00000454775.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": 2867,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000864209.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534268.1",
"strand": false,
"transcript": "ENST00000864209.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 2827,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000864210.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534269.1",
"strand": false,
"transcript": "ENST00000864210.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 2810,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000864211.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534270.1",
"strand": false,
"transcript": "ENST00000864211.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4796,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000864212.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534271.1",
"strand": false,
"transcript": "ENST00000864212.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": 2679,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000864213.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534272.1",
"strand": false,
"transcript": "ENST00000864213.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4927,
"cdna_start": 2717,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000864214.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534273.1",
"strand": false,
"transcript": "ENST00000864214.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": 2710,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000864215.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534274.1",
"strand": false,
"transcript": "ENST00000864215.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 958,
"aa_ref": "R",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3786,
"cdna_start": 2711,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000938011.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2348G>A",
"hgvs_p": "p.Arg783His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608070.1",
"strand": false,
"transcript": "ENST00000938011.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7897,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000938009.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Arg750His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608068.1",
"strand": false,
"transcript": "ENST00000938009.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7817,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000938010.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Arg750His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608069.1",
"strand": false,
"transcript": "ENST00000938010.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7849,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000952647.1",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "c.2228G>A",
"hgvs_p": "p.Arg743His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622706.1",
"strand": false,
"transcript": "ENST00000952647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000473554.5",
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"hgvs_c": "n.*68G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000473554.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1189081851",
"effect": "missense_variant",
"frequency_reference_population": 0.0000024794945,
"gene_hgnc_id": 20063,
"gene_symbol": "USP37",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.0000020533,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657177,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.313,
"pos": 218466065,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.092,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020935.3"
}
]
}