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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: 2-218466065-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218466065&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218466065,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020935.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "NM_020935.3",
"protein_id": "NP_065986.3",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258399.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020935.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000258399.8",
"protein_id": "ENSP00000258399.3",
"transcript_support_level": 1,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020935.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258399.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000418019.5",
"protein_id": "ENSP00000396585.1",
"transcript_support_level": 1,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418019.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2129G>T",
"hgvs_p": "p.Arg710Leu",
"transcript": "ENST00000415516.5",
"protein_id": "ENSP00000400902.1",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 885,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415516.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000454775.5",
"protein_id": "ENSP00000393662.1",
"transcript_support_level": 2,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454775.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000864209.1",
"protein_id": "ENSP00000534268.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864209.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000864210.1",
"protein_id": "ENSP00000534269.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864210.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000864211.1",
"protein_id": "ENSP00000534270.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864211.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000864212.1",
"protein_id": "ENSP00000534271.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864212.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000864213.1",
"protein_id": "ENSP00000534272.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864213.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000864214.1",
"protein_id": "ENSP00000534273.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864214.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu",
"transcript": "ENST00000864215.1",
"protein_id": "ENSP00000534274.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864215.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2348G>T",
"hgvs_p": "p.Arg783Leu",
"transcript": "ENST00000938011.1",
"protein_id": "ENSP00000608070.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 958,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938011.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2249G>T",
"hgvs_p": "p.Arg750Leu",
"transcript": "ENST00000938009.1",
"protein_id": "ENSP00000608068.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 925,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938009.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2249G>T",
"hgvs_p": "p.Arg750Leu",
"transcript": "ENST00000938010.1",
"protein_id": "ENSP00000608069.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 925,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938010.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Arg743Leu",
"transcript": "ENST00000952647.1",
"protein_id": "ENSP00000622706.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 918,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "n.*68G>T",
"hgvs_p": null,
"transcript": "ENST00000473554.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000473554.5"
}
],
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"dbsnp": "rs1189081851",
"frequency_reference_population": 6.8443177e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84432e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28823721408843994,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.5835,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.313,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020935.3",
"gene_symbol": "USP37",
"hgnc_id": 20063,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2411G>T",
"hgvs_p": "p.Arg804Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}