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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: 18-42004535-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=42004535&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 42004535,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002647.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "NM_002647.4",
"protein_id": "NP_002638.2",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 887,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 9415,
"mane_select": "ENST00000262039.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002647.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "ENST00000262039.9",
"protein_id": "ENSP00000262039.3",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 887,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 9415,
"mane_select": "NM_002647.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262039.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "ENST00000858068.1",
"protein_id": "ENSP00000528127.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 885,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858068.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "ENST00000858070.1",
"protein_id": "ENSP00000528129.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 862,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858070.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1068T>G",
"hgvs_p": "p.Asp356Glu",
"transcript": "ENST00000959750.1",
"protein_id": "ENSP00000629809.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 855,
"cds_start": 1068,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959750.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1059T>G",
"hgvs_p": "p.Asp353Glu",
"transcript": "ENST00000858069.1",
"protein_id": "ENSP00000528128.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 852,
"cds_start": 1059,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858069.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "ENST00000858066.1",
"protein_id": "ENSP00000528125.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 843,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858066.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1020T>G",
"hgvs_p": "p.Asp340Glu",
"transcript": "ENST00000858067.1",
"protein_id": "ENSP00000528126.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 839,
"cds_start": 1020,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858067.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.975T>G",
"hgvs_p": "p.Asp325Glu",
"transcript": "NM_001308020.2",
"protein_id": "NP_001294949.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 824,
"cds_start": 975,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 9226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308020.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.975T>G",
"hgvs_p": "p.Asp325Glu",
"transcript": "ENST00000398870.7",
"protein_id": "ENSP00000381845.2",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 824,
"cds_start": 975,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398870.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "ENST00000589056.6",
"protein_id": "ENSP00000471957.2",
"transcript_support_level": 2,
"aa_start": 388,
"aa_end": null,
"aa_length": 757,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589056.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "ENST00000587402.3",
"protein_id": "ENSP00000473061.2",
"transcript_support_level": 3,
"aa_start": 388,
"aa_end": null,
"aa_length": 756,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587402.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "XM_047437549.1",
"protein_id": "XP_047293505.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 758,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437549.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.606T>G",
"hgvs_p": "p.Asp202Glu",
"transcript": "XM_047437550.1",
"protein_id": "XP_047293506.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 701,
"cds_start": 606,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 9093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437550.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu",
"transcript": "XM_047437551.1",
"protein_id": "XP_047293507.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 506,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437551.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.714+13981T>G",
"hgvs_p": null,
"transcript": "ENST00000959751.1",
"protein_id": "ENSP00000629810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"hgvs_c": "c.714+13981T>G",
"hgvs_p": null,
"transcript": "ENST00000938600.1",
"protein_id": "ENSP00000608659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938600.1"
}
],
"gene_symbol": "PIK3C3",
"gene_hgnc_id": 8974,
"dbsnp": "rs758711608",
"frequency_reference_population": 0.000010082055,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000766622,
"gnomad_genomes_af": 0.0000328705,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21599581837654114,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.1956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.04,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002647.4",
"gene_symbol": "PIK3C3",
"hgnc_id": 8974,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1164T>G",
"hgvs_p": "p.Asp388Glu"
}
],
"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
}