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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: 10-97641176-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97641176&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97641176,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_018425.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "NM_018425.4",
"protein_id": "NP_060895.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 479,
"cds_start": 434,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": "ENST00000370631.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018425.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000370631.4",
"protein_id": "ENSP00000359665.3",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 479,
"cds_start": 434,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": "NM_018425.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370631.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249967",
"gene_hgnc_id": null,
"hgvs_c": "c.346-9765G>A",
"hgvs_p": null,
"transcript": "ENST00000370649.3",
"protein_id": "ENSP00000359683.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370649.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000880060.1",
"protein_id": "ENSP00000550119.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 518,
"cds_start": 434,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880060.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000880061.1",
"protein_id": "ENSP00000550120.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 508,
"cds_start": 434,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880061.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000931597.1",
"protein_id": "ENSP00000601656.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 459,
"cds_start": 434,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931597.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000880059.1",
"protein_id": "ENSP00000550118.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 435,
"cds_start": 434,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880059.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000880058.1",
"protein_id": "ENSP00000550117.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 425,
"cds_start": 434,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880058.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000880057.1",
"protein_id": "ENSP00000550116.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 412,
"cds_start": 434,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880057.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000941613.1",
"protein_id": "ENSP00000611672.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 381,
"cds_start": 434,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941613.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000931595.1",
"protein_id": "ENSP00000601654.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 363,
"cds_start": 434,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931595.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000941614.1",
"protein_id": "ENSP00000611673.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 265,
"cds_start": 434,
"cds_end": null,
"cds_length": 798,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941614.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000931596.1",
"protein_id": "ENSP00000601655.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 198,
"cds_start": 434,
"cds_end": null,
"cds_length": 597,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931596.1"
}
],
"gene_symbol": "PI4K2A",
"gene_hgnc_id": 30031,
"dbsnp": "rs776553956",
"frequency_reference_population": 0.0000013800756,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138008,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7786610126495361,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5559999942779541,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.767,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3661,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.714,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.532224162959322,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018425.4",
"gene_symbol": "PI4K2A",
"hgnc_id": 30031,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370649.3",
"gene_symbol": "ENSG00000249967",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.346-9765G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}