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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: 3-30833916-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=30833916&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 30833916,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_207359.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADL1",
"gene_hgnc_id": 27949,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Trp329*",
"transcript": "NM_207359.3",
"protein_id": "NP_997242.2",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 521,
"cds_start": 987,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 3658,
"mane_select": "ENST00000282538.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207359.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADL1",
"gene_hgnc_id": 27949,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Trp329*",
"transcript": "ENST00000282538.10",
"protein_id": "ENSP00000282538.5",
"transcript_support_level": 5,
"aa_start": 329,
"aa_end": null,
"aa_length": 521,
"cds_start": 987,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 3658,
"mane_select": "NM_207359.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282538.10"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADL1",
"gene_hgnc_id": 27949,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Trp329*",
"transcript": "ENST00000454381.3",
"protein_id": "ENSP00000427059.1",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 418,
"cds_start": 987,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454381.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADL1",
"gene_hgnc_id": 27949,
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Trp284*",
"transcript": "ENST00000944950.1",
"protein_id": "ENSP00000615009.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 476,
"cds_start": 852,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944950.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADL1",
"gene_hgnc_id": 27949,
"hgvs_c": "c.930G>A",
"hgvs_p": "p.Trp310*",
"transcript": "XM_017006297.2",
"protein_id": "XP_016861786.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 502,
"cds_start": 930,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006297.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADL1",
"gene_hgnc_id": 27949,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Trp329*",
"transcript": "XM_047448071.1",
"protein_id": "XP_047304027.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 441,
"cds_start": 987,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448071.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GADL1",
"gene_hgnc_id": 27949,
"hgvs_c": "c.651+16080G>A",
"hgvs_p": null,
"transcript": "ENST00000944949.1",
"protein_id": "ENSP00000615008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944949.1"
}
],
"gene_symbol": "GADL1",
"gene_hgnc_id": 27949,
"dbsnp": "rs150289306",
"frequency_reference_population": 6.848518e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84852e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.455,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_207359.3",
"gene_symbol": "GADL1",
"hgnc_id": 27949,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Trp329*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}