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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: 9-120909242-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120909242&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 120909242,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000373887.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF1",
"gene_hgnc_id": 12031,
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Pro340Pro",
"transcript": "NM_005658.5",
"protein_id": "NP_005649.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 416,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": "ENST00000373887.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF1",
"gene_hgnc_id": 12031,
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Pro340Pro",
"transcript": "ENST00000373887.8",
"protein_id": "ENSP00000362994.3",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 416,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": "NM_005658.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF1",
"gene_hgnc_id": 12031,
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Pro340Pro",
"transcript": "ENST00000540010.1",
"protein_id": "ENSP00000443183.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 416,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF1",
"gene_hgnc_id": 12031,
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Pro340Pro",
"transcript": "NM_001190945.2",
"protein_id": "NP_001177874.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 416,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF1",
"gene_hgnc_id": 12031,
"hgvs_c": "c.654C>T",
"hgvs_p": "p.Pro218Pro",
"transcript": "NM_001190947.2",
"protein_id": "NP_001177876.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 294,
"cds_start": 654,
"cds_end": null,
"cds_length": 885,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF1",
"gene_hgnc_id": 12031,
"hgvs_c": "c.654C>T",
"hgvs_p": "p.Pro218Pro",
"transcript": "ENST00000546084.5",
"protein_id": "ENSP00000438583.1",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 294,
"cds_start": 654,
"cds_end": null,
"cds_length": 885,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRAF1",
"gene_hgnc_id": 12031,
"dbsnp": "rs2239657",
"frequency_reference_population": 0.6680661,
"hom_count_reference_population": 362759,
"allele_count_reference_population": 1077962,
"gnomad_exomes_af": 0.666116,
"gnomad_genomes_af": 0.686817,
"gnomad_exomes_ac": 973581,
"gnomad_genomes_ac": 104381,
"gnomad_exomes_homalt": 326630,
"gnomad_genomes_homalt": 36129,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"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": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.009,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000373887.8",
"gene_symbol": "TRAF1",
"hgnc_id": 12031,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Pro340Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}