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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: 19-35269656-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35269656&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35269656,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003367.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "NM_003367.4",
"protein_id": "NP_003358.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 346,
"cds_start": 185,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222305.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003367.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "ENST00000222305.8",
"protein_id": "ENSP00000222305.2",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 346,
"cds_start": 185,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003367.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222305.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "ENST00000343550.9",
"protein_id": "ENSP00000340633.4",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 279,
"cds_start": 185,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343550.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "ENST00000379134.7",
"protein_id": "ENSP00000368429.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 215,
"cds_start": 185,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379134.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.His60Arg",
"transcript": "ENST00000594064.5",
"protein_id": "ENSP00000471511.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 349,
"cds_start": 179,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594064.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "ENST00000595068.5",
"protein_id": "ENSP00000471099.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 338,
"cds_start": 185,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595068.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "NM_207291.3",
"protein_id": "NP_997174.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 279,
"cds_start": 185,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207291.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "ENST00000886191.1",
"protein_id": "ENSP00000556250.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 185,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886191.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "NM_001321150.2",
"protein_id": "NP_001308079.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 215,
"cds_start": 185,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321150.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.His57Arg",
"transcript": "ENST00000598058.1",
"protein_id": "ENSP00000469585.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 168,
"cds_start": 170,
"cds_end": null,
"cds_length": 508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598058.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "XM_005259197.5",
"protein_id": "XP_005259254.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 351,
"cds_start": 185,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259197.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "XM_011527260.3",
"protein_id": "XP_011525562.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 258,
"cds_start": 185,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527260.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg",
"transcript": "XM_011527261.3",
"protein_id": "XP_011525563.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 244,
"cds_start": 185,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527261.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "n.201A>G",
"hgvs_p": null,
"transcript": "ENST00000593708.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000593708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "n.267A>G",
"hgvs_p": null,
"transcript": "ENST00000602164.5",
"protein_id": "ENSP00000477020.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000602164.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"hgvs_c": "n.56A>G",
"hgvs_p": null,
"transcript": "ENST00000607959.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000607959.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307673",
"gene_hgnc_id": null,
"hgvs_c": "n.201-2886T>C",
"hgvs_p": null,
"transcript": "ENST00000827775.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000827775.1"
}
],
"gene_symbol": "USF2",
"gene_hgnc_id": 12594,
"dbsnp": "rs1303724217",
"frequency_reference_population": 0.0000050626245,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000506262,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42555588483810425,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.448,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1877,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.729,
"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": -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_003367.4",
"gene_symbol": "USF2",
"hgnc_id": 12594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.185A>G",
"hgvs_p": "p.His62Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000827775.1",
"gene_symbol": "ENSG00000307673",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.201-2886T>C",
"hgvs_p": null
}
],
"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
}