← 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: 3-73384027-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=73384027&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 73384027,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000263666.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.2539C>T",
"hgvs_p": "p.Arg847Trp",
"transcript": "NM_015009.3",
"protein_id": "NP_055824.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2539,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": "ENST00000263666.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.2539C>T",
"hgvs_p": "p.Arg847Trp",
"transcript": "ENST00000263666.9",
"protein_id": "ENSP00000263666.4",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2539,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": "NM_015009.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Arg569Trp",
"transcript": "NM_001303141.2",
"protein_id": "NP_001290070.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 788,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Arg564Trp",
"transcript": "NM_001303142.2",
"protein_id": "NP_001290071.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 783,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Arg564Trp",
"transcript": "ENST00000479530.5",
"protein_id": "ENSP00000418624.1",
"transcript_support_level": 2,
"aa_start": 564,
"aa_end": null,
"aa_length": 783,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Trp",
"transcript": "NM_001303139.2",
"protein_id": "NP_001290068.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 764,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.1510C>T",
"hgvs_p": "p.Arg504Trp",
"transcript": "NM_001303140.2",
"protein_id": "NP_001290069.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 723,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.1510C>T",
"hgvs_p": "p.Arg504Trp",
"transcript": "ENST00000462146.6",
"protein_id": "ENSP00000418168.2",
"transcript_support_level": 2,
"aa_start": 504,
"aa_end": null,
"aa_length": 723,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.1510C>T",
"hgvs_p": "p.Arg504Trp",
"transcript": "ENST00000466780.5",
"protein_id": "ENSP00000418484.1",
"transcript_support_level": 2,
"aa_start": 504,
"aa_end": null,
"aa_length": 723,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818Trp",
"transcript": "XM_017005942.3",
"protein_id": "XP_016861431.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2452,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.706-222C>T",
"hgvs_p": null,
"transcript": "ENST00000494559.5",
"protein_id": "ENSP00000419095.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309320",
"gene_hgnc_id": null,
"hgvs_c": "n.80-49660G>A",
"hgvs_p": null,
"transcript": "ENST00000840257.1",
"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": 405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"hgvs_c": "c.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000492909.1",
"protein_id": "ENSP00000419250.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": -4,
"cds_end": null,
"cds_length": 1477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDZRN3",
"gene_hgnc_id": 17704,
"dbsnp": "rs773329304",
"frequency_reference_population": 0.00009354995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 149,
"gnomad_exomes_af": 0.0000985735,
"gnomad_genomes_af": 0.0000459976,
"gnomad_exomes_ac": 142,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1572880744934082,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.1104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.3,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000263666.9",
"gene_symbol": "PDZRN3",
"hgnc_id": 17704,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2539C>T",
"hgvs_p": "p.Arg847Trp"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000840257.1",
"gene_symbol": "ENSG00000309320",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.80-49660G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}