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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: 3-38712340-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38712340&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38712340,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000449082.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3910G>A",
"hgvs_p": "p.Ala1304Thr",
"transcript": "NM_006514.4",
"protein_id": "NP_006505.4",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1956,
"cds_start": 3910,
"cds_end": null,
"cds_length": 5871,
"cdna_start": 4123,
"cdna_end": null,
"cdna_length": 6626,
"mane_select": "ENST00000449082.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3910G>A",
"hgvs_p": "p.Ala1304Thr",
"transcript": "ENST00000449082.3",
"protein_id": "ENSP00000390600.2",
"transcript_support_level": 1,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1956,
"cds_start": 3910,
"cds_end": null,
"cds_length": 5871,
"cdna_start": 4123,
"cdna_end": null,
"cdna_length": 6626,
"mane_select": "NM_006514.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3907G>A",
"hgvs_p": "p.Ala1303Thr",
"transcript": "ENST00000643924.1",
"protein_id": "ENSP00000495595.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1955,
"cds_start": 3907,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 5903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3934G>A",
"hgvs_p": "p.Ala1312Thr",
"transcript": "ENST00000655275.1",
"protein_id": "ENSP00000499510.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1964,
"cds_start": 3934,
"cds_end": null,
"cds_length": 5895,
"cdna_start": 4196,
"cdna_end": null,
"cdna_length": 6704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3907G>A",
"hgvs_p": "p.Ala1303Thr",
"transcript": "NM_001293306.2",
"protein_id": "NP_001280235.2",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1955,
"cds_start": 3907,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 3907,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3616G>A",
"hgvs_p": "p.Ala1206Thr",
"transcript": "NM_001293307.2",
"protein_id": "NP_001280236.2",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1858,
"cds_start": 3616,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 3616,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3919G>A",
"hgvs_p": "p.Ala1307Thr",
"transcript": "XM_005265371.4",
"protein_id": "XP_005265428.1",
"transcript_support_level": null,
"aa_start": 1307,
"aa_end": null,
"aa_length": 1959,
"cds_start": 3919,
"cds_end": null,
"cds_length": 5880,
"cdna_start": 3919,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3916G>A",
"hgvs_p": "p.Ala1306Thr",
"transcript": "XM_011533993.3",
"protein_id": "XP_011532295.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1958,
"cds_start": 3916,
"cds_end": null,
"cds_length": 5877,
"cdna_start": 3916,
"cdna_end": null,
"cdna_length": 6419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SCN10A",
"gene_hgnc_id": 10582,
"hgvs_c": "c.3625G>A",
"hgvs_p": "p.Ala1209Thr",
"transcript": "XM_011533994.3",
"protein_id": "XP_011532296.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1861,
"cds_start": 3625,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 6128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN10A",
"gene_hgnc_id": 10582,
"dbsnp": "rs142173735",
"frequency_reference_population": 0.00003779308,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000355705,
"gnomad_genomes_af": 0.0000591452,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.78719162940979,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.823,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3834,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.003,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000449082.3",
"gene_symbol": "SCN10A",
"hgnc_id": 10582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3910G>A",
"hgvs_p": "p.Ala1304Thr"
}
],
"clinvar_disease": " 2, familial,Brugada syndrome,Cardiovascular phenotype,Episodic pain syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Episodic pain syndrome, familial, 2|Brugada syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}