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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: 20-44160208-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44160208&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "JPH2",
"hgnc_id": 14202,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"inheritance_mode": "Unknown,SD,AR,AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_020433.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "20",
"clinvar_classification": "Likely benign",
"clinvar_disease": " 2E, dilated,Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 17",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9502,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_020433.5",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9502,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000372980.4",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 723,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4474,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2172,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000900331.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 2154,
"cds_start": 642,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000950207.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Pro214Pro",
"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": "P",
"aa_end": null,
"aa_length": 702,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 2109,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000950209.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4338,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900328.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4279,
"cdna_start": 946,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900329.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000900330.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950203.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950204.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 974,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950205.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4395,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000950206.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": "P",
"aa_end": null,
"aa_length": 696,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4364,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 2091,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000950208.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Pro193Pro",
"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": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950210.1",
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"hgvs_c": "c.379+26119C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": "rs534491843",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000021253112,
"gene_hgnc_id": 14202,
"gene_symbol": "JPH2",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.00000714515,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 21,
"gnomad_genomes_af": 0.000138192,
"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": "Likely benign",
"phenotype_combined": "Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 17;Cardiomyopathy, dilated, 2E",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.579,
"pos": 44160208,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"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"
}
]
}