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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: 6-150733694-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=150733694&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 150733694,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000696526.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "NM_001029884.3",
"protein_id": "NP_001025055.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1385,
"cds_start": 13,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 7217,
"mane_select": "ENST00000696526.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "ENST00000696526.1",
"protein_id": "ENSP00000512689.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1385,
"cds_start": 13,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 7217,
"mane_select": "NM_001029884.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Asp64His",
"transcript": "NM_001329798.2",
"protein_id": "NP_001316727.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1444,
"cds_start": 190,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 7220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.133G>C",
"hgvs_p": "p.Asp45His",
"transcript": "NM_001329799.2",
"protein_id": "NP_001316728.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1425,
"cds_start": 133,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 7158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "NM_001329800.2",
"protein_id": "NP_001316729.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1385,
"cds_start": 13,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 7261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "NM_001329801.2",
"protein_id": "NP_001316730.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1385,
"cds_start": 13,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 7127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "ENST00000358517.6",
"protein_id": "ENSP00000351318.2",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 1385,
"cds_start": 13,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 7138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "ENST00000644968.1",
"protein_id": "ENSP00000496254.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1385,
"cds_start": 13,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "NM_001329802.2",
"protein_id": "NP_001316731.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1372,
"cds_start": 13,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "NM_001329803.2",
"protein_id": "NP_001316732.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1346,
"cds_start": 13,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 7010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "NM_001329804.2",
"protein_id": "NP_001316733.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 545,
"cds_start": 13,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "NM_001329805.2",
"protein_id": "NP_001316734.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 545,
"cds_start": 13,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "NM_001329806.2",
"protein_id": "NP_001316735.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 545,
"cds_start": 13,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Asp77His",
"transcript": "ENST00000644913.1",
"protein_id": "ENSP00000493494.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 208,
"cds_start": 229,
"cds_end": null,
"cds_length": 627,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His",
"transcript": "ENST00000367326.1",
"protein_id": "ENSP00000356295.1",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 45,
"cds_start": 13,
"cds_end": null,
"cds_length": 140,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"hgvs_c": "n.*21G>C",
"hgvs_p": null,
"transcript": "ENST00000644996.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLEKHG1",
"gene_hgnc_id": 20884,
"dbsnp": "rs1383213719",
"frequency_reference_population": 0.0000013680939,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"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": 0.3403019309043884,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.6274,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.403,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000696526.1",
"gene_symbol": "PLEKHG1",
"hgnc_id": 20884,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Asp5His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}