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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: 2-218482092-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218482092&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218482092,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020935.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "NM_020935.3",
"protein_id": "NP_065986.3",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000258399.8",
"protein_id": "ENSP00000258399.3",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000418019.5",
"protein_id": "ENSP00000396585.1",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1597G>T",
"hgvs_p": "p.Gly533Cys",
"transcript": "ENST00000415516.5",
"protein_id": "ENSP00000400902.1",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 885,
"cds_start": 1597,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000454775.5",
"protein_id": "ENSP00000393662.1",
"transcript_support_level": 2,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000864209.1",
"protein_id": "ENSP00000534268.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000864210.1",
"protein_id": "ENSP00000534269.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000864211.1",
"protein_id": "ENSP00000534270.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000864212.1",
"protein_id": "ENSP00000534271.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000864213.1",
"protein_id": "ENSP00000534272.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000864214.1",
"protein_id": "ENSP00000534273.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys",
"transcript": "ENST00000864215.1",
"protein_id": "ENSP00000534274.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 979,
"cds_start": 1813,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1750G>T",
"hgvs_p": "p.Gly584Cys",
"transcript": "ENST00000938011.1",
"protein_id": "ENSP00000608070.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 958,
"cds_start": 1750,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1651G>T",
"hgvs_p": "p.Gly551Cys",
"transcript": "ENST00000938009.1",
"protein_id": "ENSP00000608068.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 925,
"cds_start": 1651,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1651G>T",
"hgvs_p": "p.Gly551Cys",
"transcript": "ENST00000938010.1",
"protein_id": "ENSP00000608069.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 925,
"cds_start": 1651,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "c.1630G>T",
"hgvs_p": "p.Gly544Cys",
"transcript": "ENST00000952647.1",
"protein_id": "ENSP00000622706.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 918,
"cds_start": 1630,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"hgvs_c": "n.486G>T",
"hgvs_p": null,
"transcript": "ENST00000475553.1",
"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": "ENST00000475553.1"
}
],
"gene_symbol": "USP37",
"gene_hgnc_id": 20063,
"dbsnp": "rs1691301171",
"frequency_reference_population": 6.8500566e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85006e-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": 0.4885246753692627,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.32,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2841,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.659,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020935.3",
"gene_symbol": "USP37",
"hgnc_id": 20063,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Gly605Cys"
}
],
"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
}