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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: 9-133153735-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133153735&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133153735,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000372040.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>A",
"hgvs_p": "p.Arg296Arg",
"transcript": "NM_021996.6",
"protein_id": "NP_068836.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": "ENST00000372040.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>A",
"hgvs_p": "p.Arg296Arg",
"transcript": "ENST00000372040.9",
"protein_id": "ENSP00000361110.3",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": "NM_021996.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.*1439C>A",
"hgvs_p": null,
"transcript": "ENST00000470431.5",
"protein_id": "ENSP00000495017.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": -4,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285245",
"gene_hgnc_id": null,
"hgvs_c": "c.396+1443C>A",
"hgvs_p": null,
"transcript": "ENST00000647146.1",
"protein_id": "ENSP00000493691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": -4,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.835C>A",
"hgvs_p": "p.Arg279Arg",
"transcript": "NM_001282632.2",
"protein_id": "NP_001269561.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 330,
"cds_start": 835,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.835C>A",
"hgvs_p": "p.Arg279Arg",
"transcript": "ENST00000540636.6",
"protein_id": "ENSP00000437663.1",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 330,
"cds_start": 835,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.745C>A",
"hgvs_p": "p.Arg249Arg",
"transcript": "NM_001288572.2",
"protein_id": "NP_001275501.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 300,
"cds_start": 745,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Gly289Gly",
"transcript": "NM_001282629.2",
"protein_id": "NP_001269558.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 294,
"cds_start": 867,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Gly289Gly",
"transcript": "ENST00000372043.7",
"protein_id": "ENSP00000361113.3",
"transcript_support_level": 2,
"aa_start": 289,
"aa_end": null,
"aa_length": 294,
"cds_start": 867,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "NM_001288573.2",
"protein_id": "NP_001275502.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 211,
"cds_start": 478,
"cds_end": null,
"cds_length": 636,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "n.2166C>A",
"hgvs_p": null,
"transcript": "ENST00000472281.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.*440C>A",
"hgvs_p": null,
"transcript": "ENST00000646215.1",
"protein_id": "ENSP00000493832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": -4,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"dbsnp": "rs141041392",
"frequency_reference_population": 0.0000020531547,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205315,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.433,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372040.9",
"gene_symbol": "GBGT1",
"hgnc_id": 20460,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.886C>A",
"hgvs_p": "p.Arg296Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647146.1",
"gene_symbol": "ENSG00000285245",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.396+1443C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}