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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: 16-4883477-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4883477&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4883477,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002705.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5178G>A",
"hgvs_p": "p.Gln1726Gln",
"transcript": "NM_002705.5",
"protein_id": "NP_002696.4",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 1756,
"cds_start": 5178,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345988.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002705.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5178G>A",
"hgvs_p": "p.Gln1726Gln",
"transcript": "ENST00000345988.7",
"protein_id": "ENSP00000340510.2",
"transcript_support_level": 1,
"aa_start": 1726,
"aa_end": null,
"aa_length": 1756,
"cds_start": 5178,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002705.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345988.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5226G>A",
"hgvs_p": "p.Gln1742Gln",
"transcript": "ENST00000950847.1",
"protein_id": "ENSP00000620906.1",
"transcript_support_level": null,
"aa_start": 1742,
"aa_end": null,
"aa_length": 1772,
"cds_start": 5226,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950847.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5175G>A",
"hgvs_p": "p.Gln1725Gln",
"transcript": "ENST00000923224.1",
"protein_id": "ENSP00000593283.1",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5175,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923224.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5172G>A",
"hgvs_p": "p.Gln1724Gln",
"transcript": "ENST00000590782.6",
"protein_id": "ENSP00000465640.1",
"transcript_support_level": 5,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1754,
"cds_start": 5172,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590782.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5010G>A",
"hgvs_p": "p.Gln1670Gln",
"transcript": "ENST00000923225.1",
"protein_id": "ENSP00000593284.1",
"transcript_support_level": null,
"aa_start": 1670,
"aa_end": null,
"aa_length": 1700,
"cds_start": 5010,
"cds_end": null,
"cds_length": 5103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923225.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4908G>A",
"hgvs_p": "p.Gln1636Gln",
"transcript": "ENST00000950848.1",
"protein_id": "ENSP00000620907.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1666,
"cds_start": 4908,
"cds_end": null,
"cds_length": 5001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950848.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5265G>A",
"hgvs_p": "p.Gln1755Gln",
"transcript": "XM_017023374.3",
"protein_id": "XP_016878863.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 1785,
"cds_start": 5265,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023374.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5226G>A",
"hgvs_p": "p.Gln1742Gln",
"transcript": "XM_017023375.3",
"protein_id": "XP_016878864.1",
"transcript_support_level": null,
"aa_start": 1742,
"aa_end": null,
"aa_length": 1772,
"cds_start": 5226,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023375.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.5217G>A",
"hgvs_p": "p.Gln1739Gln",
"transcript": "XM_006720902.5",
"protein_id": "XP_006720965.1",
"transcript_support_level": null,
"aa_start": 1739,
"aa_end": null,
"aa_length": 1769,
"cds_start": 5217,
"cds_end": null,
"cds_length": 5310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720902.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*95G>A",
"hgvs_p": null,
"transcript": "ENST00000592772.1",
"protein_id": "ENSP00000467699.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": null,
"cds_end": null,
"cds_length": 3346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592772.1"
}
],
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"dbsnp": "rs757834411",
"frequency_reference_population": 6.8404785e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84048e-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": -0.6399999856948853,
"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": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.043,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002705.5",
"gene_symbol": "PPL",
"hgnc_id": 9273,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5178G>A",
"hgvs_p": "p.Gln1726Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}