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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: 12-107688736-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=107688736&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PWP1",
"hgnc_id": 17015,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_007062.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 229,
"alphamissense_prediction": null,
"alphamissense_score": 0.0746,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05894923210144043,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1506,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_007062.3",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000412830.8",
"protein_coding": true,
"protein_id": "NP_008993.1",
"strand": true,
"transcript": "NM_007062.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1506,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000412830.8",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007062.3",
"protein_coding": true,
"protein_id": "ENSP00000387365.3",
"strand": true,
"transcript": "ENST00000412830.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1575,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000920794.1",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590853.1",
"strand": true,
"transcript": "ENST00000920794.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 498,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 387,
"cds_end": null,
"cds_length": 1497,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000920793.1",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590852.1",
"strand": true,
"transcript": "ENST00000920793.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1494,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000945394.1",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615453.1",
"strand": true,
"transcript": "ENST00000945394.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 373,
"cds_end": null,
"cds_length": 1395,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000867450.1",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537509.1",
"strand": true,
"transcript": "ENST00000867450.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 351,
"cds_end": null,
"cds_length": 1347,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000920796.1",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590855.1",
"strand": true,
"transcript": "ENST00000920796.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 443,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1660,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1332,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000945395.1",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615454.1",
"strand": true,
"transcript": "ENST00000945395.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 439,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 277,
"cds_end": null,
"cds_length": 1320,
"cds_start": 67,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001317962.2",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Arg23Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304891.1",
"strand": true,
"transcript": "NM_001317962.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 439,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 277,
"cds_end": null,
"cds_length": 1320,
"cds_start": 67,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000541166.1",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Arg23Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445249.1",
"strand": true,
"transcript": "ENST00000541166.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 362,
"cds_end": null,
"cds_length": 1173,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000920795.1",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590854.1",
"strand": true,
"transcript": "ENST00000920795.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 97,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 341,
"cds_end": null,
"cds_length": 295,
"cds_start": 67,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547995.5",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Arg23Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447770.1",
"strand": true,
"transcript": "ENST00000547995.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 289,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": null,
"cds_end": null,
"cds_length": 870,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001317963.2",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "c.-412A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304892.1",
"strand": true,
"transcript": "NM_001317963.2",
"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": 851,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000552760.5",
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"hgvs_c": "n.253A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448227.1",
"strand": true,
"transcript": "ENST00000552760.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs141217040",
"effect": "missense_variant",
"frequency_reference_population": 0.00014187157,
"gene_hgnc_id": 17015,
"gene_symbol": "PWP1",
"gnomad_exomes_ac": 217,
"gnomad_exomes_af": 0.000148438,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 12,
"gnomad_genomes_af": 0.0000788208,
"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": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.01,
"pos": 107688736,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.072,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_007062.3"
}
]
}