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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: 4-148081460-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=148081460&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "NR3C2",
"hgnc_id": 7979,
"hgvs_c": "c.2851C>T",
"hgvs_p": "p.Arg951*",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001437657.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.63,
"chr": "4",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Autosomal dominant pseudohypoaldosteronism type 1,Pseudohyperaldosteronism type 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5792,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000901.5",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358102.8",
"protein_coding": true,
"protein_id": "NP_000892.2",
"strand": false,
"transcript": "NM_000901.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5792,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000358102.8",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000901.5",
"protein_coding": true,
"protein_id": "ENSP00000350815.3",
"strand": false,
"transcript": "ENST00000358102.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2488,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000512865.5",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Arg830*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423510.1",
"strand": false,
"transcript": "ENST00000512865.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5804,
"cdna_start": 3108,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2851,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001437657.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2851C>T",
"hgvs_p": "p.Arg951*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424586.1",
"strand": false,
"transcript": "NM_001437657.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2851,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000511528.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2851C>T",
"hgvs_p": "p.Arg951*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421481.1",
"strand": false,
"transcript": "ENST00000511528.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5909,
"cdna_start": 3214,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2851,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000625323.2",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2851C>T",
"hgvs_p": "p.Arg951*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486719.1",
"strand": false,
"transcript": "ENST00000625323.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5719,
"cdna_start": 3023,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001437654.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424583.1",
"strand": false,
"transcript": "NM_001437654.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5660,
"cdna_start": 2964,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001437655.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424584.1",
"strand": false,
"transcript": "NM_001437655.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5587,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001437656.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424585.1",
"strand": false,
"transcript": "NM_001437656.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5712,
"cdna_start": 3014,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000344721.8",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341390.4",
"strand": false,
"transcript": "ENST00000344721.8",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 2969,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000870885.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540944.1",
"strand": false,
"transcript": "ENST00000870885.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 3161,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000870886.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540945.1",
"strand": false,
"transcript": "ENST00000870886.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 2922,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2839,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000870888.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540947.1",
"strand": false,
"transcript": "ENST00000870888.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 892,
"aa_ref": "R",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 2795,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2563,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000870887.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2563C>T",
"hgvs_p": "p.Arg855*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540946.1",
"strand": false,
"transcript": "ENST00000870887.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5441,
"cdna_start": 2745,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2488,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001166104.2",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Arg830*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159576.1",
"strand": false,
"transcript": "NM_001166104.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5359,
"cdna_start": 2663,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2488,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354819.1",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Arg830*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341748.1",
"strand": false,
"transcript": "NM_001354819.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000342437.8",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "n.*222C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000343907.4",
"strand": false,
"transcript": "ENST00000342437.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_148974.2",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "n.2600C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_148974.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000342437.8",
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"hgvs_c": "n.*222C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000343907.4",
"strand": false,
"transcript": "ENST00000342437.8",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121912569",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 7979,
"gene_symbol": "NR3C2",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Autosomal dominant pseudohypoaldosteronism type 1|Autosomal dominant pseudohypoaldosteronism type 1;Pseudohyperaldosteronism type 2",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.282,
"pos": 148081460,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001437657.1"
}
]
}