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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: 16-81123748-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81123748&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 81123748,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000525539.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "c.6386C>T",
"hgvs_p": "p.Thr2129Met",
"transcript": "ENST00000525539.5",
"protein_id": "ENSP00000434417.1",
"transcript_support_level": 1,
"aa_start": 2129,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6386,
"cds_end": null,
"cds_length": 7379,
"cdna_start": 6386,
"cdna_end": null,
"cdna_length": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525539.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "c.4331C>T",
"hgvs_p": "p.Thr1444Met",
"transcript": "ENST00000533478.5",
"protein_id": "ENSP00000434644.1",
"transcript_support_level": 1,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1773,
"cds_start": 4331,
"cds_end": null,
"cds_length": 5324,
"cdna_start": 4442,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533478.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "n.878C>T",
"hgvs_p": null,
"transcript": "ENST00000530363.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530363.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "n.775C>T",
"hgvs_p": null,
"transcript": "ENST00000534142.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000534142.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "n.6401C>T",
"hgvs_p": null,
"transcript": "NR_126532.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7642,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_126532.3"
}
],
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"dbsnp": "rs16954698",
"frequency_reference_population": 0.051902995,
"hom_count_reference_population": 2587,
"allele_count_reference_population": 83765,
"gnomad_exomes_af": 0.0517427,
"gnomad_genomes_af": 0.0534413,
"gnomad_exomes_ac": 75626,
"gnomad_genomes_ac": 8139,
"gnomad_exomes_homalt": 2289,
"gnomad_genomes_homalt": 298,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.009,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000525539.5",
"gene_symbol": "PKD1L2",
"hgnc_id": 21715,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6386C>T",
"hgvs_p": "p.Thr2129Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}