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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: 15-27527530-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=27527530&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 27527530,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000615808.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG3",
"gene_hgnc_id": 4088,
"hgvs_c": "c.963C>A",
"hgvs_p": "p.Thr321Thr",
"transcript": "NM_033223.5",
"protein_id": "NP_150092.2",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 467,
"cds_start": 963,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 10862,
"mane_select": "ENST00000615808.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG3",
"gene_hgnc_id": 4088,
"hgvs_c": "c.963C>A",
"hgvs_p": "p.Thr321Thr",
"transcript": "ENST00000615808.5",
"protein_id": "ENSP00000479113.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 467,
"cds_start": 963,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 10862,
"mane_select": "NM_033223.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG3",
"gene_hgnc_id": 4088,
"hgvs_c": "c.426C>A",
"hgvs_p": "p.Thr142Thr",
"transcript": "ENST00000333743.10",
"protein_id": "ENSP00000331912.7",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 288,
"cds_start": 426,
"cds_end": null,
"cds_length": 867,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG3",
"gene_hgnc_id": 4088,
"hgvs_c": "c.249C>A",
"hgvs_p": "p.Thr83Thr",
"transcript": "ENST00000451330.2",
"protein_id": "ENSP00000390708.2",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 168,
"cds_start": 249,
"cds_end": null,
"cds_length": 507,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259168",
"gene_hgnc_id": null,
"hgvs_c": "n.85+13583G>T",
"hgvs_p": null,
"transcript": "ENST00000556642.1",
"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": 347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG3",
"gene_hgnc_id": 4088,
"hgvs_c": "c.*15C>A",
"hgvs_p": null,
"transcript": "ENST00000554696.5",
"protein_id": "ENSP00000451862.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": -4,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRG3",
"gene_hgnc_id": 4088,
"dbsnp": "rs140679",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4749999940395355,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.475,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.982,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP7",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000615808.5",
"gene_symbol": "GABRG3",
"hgnc_id": 4088,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.963C>A",
"hgvs_p": "p.Thr321Thr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556642.1",
"gene_symbol": "ENSG00000259168",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.85+13583G>T",
"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
}