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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: 16-71950128-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=71950128&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 71950128,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_181536.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3373G>C",
"hgvs_p": "p.Glu1125Gln",
"transcript": "NM_181536.2",
"protein_id": "NP_853514.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1732,
"cds_start": 3373,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620267.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181536.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3373G>C",
"hgvs_p": "p.Glu1125Gln",
"transcript": "ENST00000620267.2",
"protein_id": "ENSP00000480090.1",
"transcript_support_level": 1,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1732,
"cds_start": 3373,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181536.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620267.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3370G>C",
"hgvs_p": "p.Glu1124Gln",
"transcript": "XM_024450254.2",
"protein_id": "XP_024306022.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1731,
"cds_start": 3370,
"cds_end": null,
"cds_length": 5196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450254.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3373G>C",
"hgvs_p": "p.Glu1125Gln",
"transcript": "XM_024450255.2",
"protein_id": "XP_024306023.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1726,
"cds_start": 3373,
"cds_end": null,
"cds_length": 5181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450255.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3196G>C",
"hgvs_p": "p.Glu1066Gln",
"transcript": "XM_024450256.2",
"protein_id": "XP_024306024.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1673,
"cds_start": 3196,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450256.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3187G>C",
"hgvs_p": "p.Glu1063Gln",
"transcript": "XM_024450257.2",
"protein_id": "XP_024306025.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1670,
"cds_start": 3187,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450257.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.2821G>C",
"hgvs_p": "p.Glu941Gln",
"transcript": "XM_024450258.1",
"protein_id": "XP_024306026.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1548,
"cds_start": 2821,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450258.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.2821G>C",
"hgvs_p": "p.Glu941Gln",
"transcript": "XM_024450259.1",
"protein_id": "XP_024306027.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1548,
"cds_start": 2821,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450259.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.2665G>C",
"hgvs_p": "p.Glu889Gln",
"transcript": "XM_024450260.1",
"protein_id": "XP_024306028.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1496,
"cds_start": 2665,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450260.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3373G>C",
"hgvs_p": "p.Glu1125Gln",
"transcript": "XM_017023201.2",
"protein_id": "XP_016878690.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3373,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023201.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3373G>C",
"hgvs_p": "p.Glu1125Gln",
"transcript": "XM_017023202.2",
"protein_id": "XP_016878691.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023202.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.*123G>C",
"hgvs_p": null,
"transcript": "XM_017023203.2",
"protein_id": "XP_016878692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": null,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023203.2"
}
],
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"dbsnp": "rs760164595",
"frequency_reference_population": 0.0000025777447,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000142884,
"gnomad_genomes_af": 0.0000131572,
"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": 0.043941110372543335,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0822,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.024,
"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_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_181536.2",
"gene_symbol": "PKD1L3",
"hgnc_id": 21716,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3373G>C",
"hgvs_p": "p.Glu1125Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}