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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: 4-17501810-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=17501810&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 17501810,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000281243.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Ser115Ser",
"transcript": "NM_000320.3",
"protein_id": "NP_000311.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 244,
"cds_start": 345,
"cds_end": null,
"cds_length": 735,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": "ENST00000281243.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Ser115Ser",
"transcript": "ENST00000281243.10",
"protein_id": "ENSP00000281243.5",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 244,
"cds_start": 345,
"cds_end": null,
"cds_length": 735,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": "NM_000320.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "c.252G>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "NM_001306140.2",
"protein_id": "NP_001293069.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 213,
"cds_start": 252,
"cds_end": null,
"cds_length": 642,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "c.252G>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "ENST00000428702.6",
"protein_id": "ENSP00000390944.2",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 213,
"cds_start": 252,
"cds_end": null,
"cds_length": 642,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Ser115Ser",
"transcript": "ENST00000508623.5",
"protein_id": "ENSP00000426377.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 162,
"cds_start": 345,
"cds_end": null,
"cds_length": 489,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Ser115Ser",
"transcript": "ENST00000513615.5",
"protein_id": "ENSP00000422759.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 152,
"cds_start": 345,
"cds_end": null,
"cds_length": 459,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "c.270G>T",
"hgvs_p": "p.Ser90Ser",
"transcript": "ENST00000505710.1",
"protein_id": "ENSP00000420873.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 127,
"cds_start": 270,
"cds_end": null,
"cds_length": 384,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "n.345G>T",
"hgvs_p": null,
"transcript": "ENST00000507439.5",
"protein_id": "ENSP00000423227.1",
"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": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "n.*276G>T",
"hgvs_p": null,
"transcript": "ENST00000514300.1",
"protein_id": "ENSP00000426039.1",
"transcript_support_level": 3,
"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": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "n.1392G>T",
"hgvs_p": null,
"transcript": "ENST00000706645.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "n.381G>T",
"hgvs_p": null,
"transcript": "NR_156494.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"hgvs_c": "n.*276G>T",
"hgvs_p": null,
"transcript": "ENST00000514300.1",
"protein_id": "ENSP00000426039.1",
"transcript_support_level": 3,
"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": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "QDPR",
"gene_hgnc_id": 9752,
"dbsnp": "rs3733570",
"frequency_reference_population": 0.000002478195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": 0.0000131389,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.881,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000281243.10",
"gene_symbol": "QDPR",
"hgnc_id": 9752,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Ser115Ser"
}
],
"clinvar_disease": "Dihydropteridine reductase deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Dihydropteridine reductase deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}