← Back to variant description
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: 10-100288451-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100288451&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 100288451,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000318222.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD2L1",
"gene_hgnc_id": 9011,
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ala788Val",
"transcript": "NM_016112.3",
"protein_id": "NP_057196.2",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 805,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": "ENST00000318222.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD2L1",
"gene_hgnc_id": 9011,
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ala788Val",
"transcript": "ENST00000318222.4",
"protein_id": "ENSP00000325296.3",
"transcript_support_level": 1,
"aa_start": 788,
"aa_end": null,
"aa_length": 805,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": "NM_016112.3",
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD2L1",
"gene_hgnc_id": 9011,
"hgvs_c": "n.*2103C>T",
"hgvs_p": null,
"transcript": "ENST00000528248.1",
"protein_id": "ENSP00000436514.1",
"transcript_support_level": 1,
"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": 2277,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD2L1",
"gene_hgnc_id": 9011,
"hgvs_c": "n.*2103C>T",
"hgvs_p": null,
"transcript": "ENST00000528248.1",
"protein_id": "ENSP00000436514.1",
"transcript_support_level": 1,
"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": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD2L1",
"gene_hgnc_id": 9011,
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Ala741Val",
"transcript": "NM_001253837.2",
"protein_id": "NP_001240766.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 758,
"cds_start": 2222,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD2L1",
"gene_hgnc_id": 9011,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"transcript": "ENST00000465680.2",
"protein_id": "ENSP00000434019.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 61,
"cds_start": 131,
"cds_end": null,
"cds_length": 186,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PKD2L1",
"gene_hgnc_id": 9011,
"dbsnp": "rs12782963",
"frequency_reference_population": 0.0000020556083,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205561,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0500921905040741,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.0791,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.574,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000318222.4",
"gene_symbol": "PKD2L1",
"hgnc_id": 9011,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ala788Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}