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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: 16-71947527-T-TTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=71947527&ref=T&alt=TTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 71947527,
"ref": "T",
"alt": "TTC",
"effect": "frameshift_variant",
"transcript": "NM_181536.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3681_3682dupGA",
"hgvs_p": "p.Asn1228fs",
"transcript": "NM_181536.2",
"protein_id": "NP_853514.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1732,
"cds_start": 3682,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 5623,
"mane_select": "ENST00000620267.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181536.2"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3681_3682dupGA",
"hgvs_p": "p.Asn1228fs",
"transcript": "ENST00000620267.2",
"protein_id": "ENSP00000480090.1",
"transcript_support_level": 1,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1732,
"cds_start": 3682,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 5623,
"mane_select": "NM_181536.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620267.2"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "XM_024450254.2",
"protein_id": "XP_024306022.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1731,
"cds_start": 3679,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 4103,
"cdna_end": null,
"cdna_length": 5620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450254.2"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3681_3682dupGA",
"hgvs_p": "p.Asn1228fs",
"transcript": "XM_024450255.2",
"protein_id": "XP_024306023.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1726,
"cds_start": 3682,
"cds_end": null,
"cds_length": 5181,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 5605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450255.2"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3504_3505dupGA",
"hgvs_p": "p.Asn1169fs",
"transcript": "XM_024450256.2",
"protein_id": "XP_024306024.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1673,
"cds_start": 3505,
"cds_end": null,
"cds_length": 5022,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 5446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450256.2"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3495_3496dupGA",
"hgvs_p": "p.Asn1166fs",
"transcript": "XM_024450257.2",
"protein_id": "XP_024306025.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1670,
"cds_start": 3496,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 3920,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450257.2"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3129_3130dupGA",
"hgvs_p": "p.Asn1044fs",
"transcript": "XM_024450258.1",
"protein_id": "XP_024306026.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3130,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 3323,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450258.1"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3129_3130dupGA",
"hgvs_p": "p.Asn1044fs",
"transcript": "XM_024450259.1",
"protein_id": "XP_024306027.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3130,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 3845,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450259.1"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.2973_2974dupGA",
"hgvs_p": "p.Asn992fs",
"transcript": "XM_024450260.1",
"protein_id": "XP_024306028.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1496,
"cds_start": 2974,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3183,
"cdna_end": null,
"cdna_length": 4700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450260.1"
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3681_3682dupGA",
"hgvs_p": "p.Asn1228fs",
"transcript": "XM_017023201.2",
"protein_id": "XP_016878690.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3682,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 4769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023201.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"hgvs_c": "c.3618+2254_3618+2255dupGA",
"hgvs_p": null,
"transcript": "XM_017023202.2",
"protein_id": "XP_016878691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": null,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023202.2"
}
],
"gene_symbol": "PKD1L3",
"gene_hgnc_id": 21716,
"dbsnp": "rs201384669",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.753,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181536.2",
"gene_symbol": "PKD1L3",
"hgnc_id": 21716,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3681_3682dupGA",
"hgvs_p": "p.Asn1228fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}