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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: 4-148152550-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=148152550&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 148152550,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000358102.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Leu",
"transcript": "NM_000901.5",
"protein_id": "NP_000892.2",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 984,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 5792,
"mane_select": "ENST00000358102.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Leu",
"transcript": "ENST00000358102.8",
"protein_id": "ENSP00000350815.3",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 984,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 5792,
"mane_select": "NM_000901.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2078C>T",
"hgvs_p": "p.Ser693Leu",
"transcript": "ENST00000512865.5",
"protein_id": "ENSP00000423510.1",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 867,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ser814Leu",
"transcript": "NM_001437657.1",
"protein_id": "NP_001424586.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 988,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 5804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ser814Leu",
"transcript": "ENST00000511528.1",
"protein_id": "ENSP00000421481.1",
"transcript_support_level": 5,
"aa_start": 814,
"aa_end": null,
"aa_length": 988,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ser814Leu",
"transcript": "ENST00000625323.2",
"protein_id": "ENSP00000486719.1",
"transcript_support_level": 5,
"aa_start": 814,
"aa_end": null,
"aa_length": 988,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Leu",
"transcript": "NM_001437654.1",
"protein_id": "NP_001424583.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 984,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Leu",
"transcript": "NM_001437655.1",
"protein_id": "NP_001424584.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 984,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 5660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Leu",
"transcript": "NM_001437656.1",
"protein_id": "NP_001424585.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 984,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 5587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Leu",
"transcript": "ENST00000344721.8",
"protein_id": "ENSP00000341390.4",
"transcript_support_level": 5,
"aa_start": 810,
"aa_end": null,
"aa_length": 984,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2078C>T",
"hgvs_p": "p.Ser693Leu",
"transcript": "NM_001166104.2",
"protein_id": "NP_001159576.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 867,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2078C>T",
"hgvs_p": "p.Ser693Leu",
"transcript": "NM_001354819.1",
"protein_id": "NP_001341748.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 867,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 5359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Leu",
"transcript": "NM_001437658.1",
"protein_id": "NP_001424587.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 845,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ser814Leu",
"transcript": "XM_011531978.3",
"protein_id": "XP_011530280.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 849,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "n.358C>T",
"hgvs_p": null,
"transcript": "ENST00000503174.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 491,
"mane_select": null,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "n.626C>T",
"hgvs_p": null,
"transcript": "ENST00000503313.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "n.2015-32262C>T",
"hgvs_p": null,
"transcript": "ENST00000342437.8",
"protein_id": "ENSP00000343907.4",
"transcript_support_level": 2,
"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": 3150,
"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": "ENSG00000250354",
"gene_hgnc_id": null,
"hgvs_c": "n.79+6001G>A",
"hgvs_p": null,
"transcript": "ENST00000514843.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"hgvs_c": "n.2272-32262C>T",
"hgvs_p": null,
"transcript": "NR_148974.2",
"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": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NR3C2",
"gene_hgnc_id": 7979,
"dbsnp": "rs41511344",
"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": 0.905282199382782,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.673,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2682,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.918,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000358102.8",
"gene_symbol": "NR3C2",
"hgnc_id": 7979,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000514843.1",
"gene_symbol": "ENSG00000250354",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.79+6001G>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant, early-onset, with exacerbation in pregnancy,Autosomal dominant pseudohypoaldosteronism type 1,Hypertension,NR3C2-related disorder,Pseudohyperaldosteronism type 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy|NR3C2-related disorder|Autosomal dominant pseudohypoaldosteronism type 1;Pseudohyperaldosteronism type 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}