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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: 20-44116189-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44116189&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "JPH2",
"hgnc_id": 14202,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"inheritance_mode": "Unknown,SD,AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_020433.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 13,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1773,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 2E, dilated,Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 17",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5486320853233337,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9502,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_020433.5",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372980.4",
"protein_coding": true,
"protein_id": "NP_065166.2",
"strand": false,
"transcript": "NM_020433.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9502,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372980.4",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020433.5",
"protein_coding": true,
"protein_id": "ENSP00000362071.3",
"strand": false,
"transcript": "ENST00000372980.4",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4474,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900331.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Arg523Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570390.1",
"strand": false,
"transcript": "ENST00000900331.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000950207.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1549C>T",
"hgvs_p": "p.Arg517Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620266.1",
"strand": false,
"transcript": "ENST00000950207.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 702,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950209.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620268.1",
"strand": false,
"transcript": "ENST00000950209.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4338,
"cdna_start": 1914,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900328.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570387.1",
"strand": false,
"transcript": "ENST00000900328.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4279,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900329.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570388.1",
"strand": false,
"transcript": "ENST00000900329.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900330.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570389.1",
"strand": false,
"transcript": "ENST00000900330.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950203.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620262.1",
"strand": false,
"transcript": "ENST00000950203.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950204.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620263.1",
"strand": false,
"transcript": "ENST00000950204.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950205.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620264.1",
"strand": false,
"transcript": "ENST00000950205.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4395,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950206.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620265.1",
"strand": false,
"transcript": "ENST00000950206.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4364,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950208.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620267.1",
"strand": false,
"transcript": "ENST00000950208.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1182,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000950210.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620269.1",
"strand": false,
"transcript": "ENST00000950210.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs863224775",
"effect": "missense_variant",
"frequency_reference_population": 0.0000093505805,
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000403779,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000526364,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 17;Cardiomyopathy, dilated, 2E",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.544,
"pos": 44116189,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.182,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020433.5"
}
]
}