← Back to variant description
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: 1-46055939-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46055939&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46055939,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000262741.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "NM_003629.4",
"protein_id": "NP_003620.3",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 461,
"cds_start": 797,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": "ENST00000262741.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000262741.10",
"protein_id": "ENSP00000262741.5",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 461,
"cds_start": 797,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": "NM_003629.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3R3URF-PIK3R3",
"gene_hgnc_id": 54999,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Arg312His",
"transcript": "ENST00000540385.2",
"protein_id": "ENSP00000439913.1",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 507,
"cds_start": 935,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000372006.5",
"protein_id": "ENSP00000361075.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 461,
"cds_start": 797,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000420542.5",
"protein_id": "ENSP00000412546.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 461,
"cds_start": 797,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.764+5990G>A",
"hgvs_p": null,
"transcript": "ENST00000423209.5",
"protein_id": "ENSP00000391431.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3R3URF-PIK3R3",
"gene_hgnc_id": 54999,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Arg312His",
"transcript": "NM_001303427.2",
"protein_id": "NP_001290356.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 507,
"cds_start": 935,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "NM_001303428.1",
"protein_id": "NP_001290357.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 478,
"cds_start": 848,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "NM_001114172.1",
"protein_id": "NP_001107644.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 461,
"cds_start": 797,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "NM_001328648.1",
"protein_id": "NP_001315577.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 417,
"cds_start": 665,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "NM_001328649.1",
"protein_id": "NP_001315578.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 417,
"cds_start": 665,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "NM_001328650.1",
"protein_id": "NP_001315579.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 417,
"cds_start": 665,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "NM_001328651.1",
"protein_id": "NP_001315580.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 417,
"cds_start": 665,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "NM_001328652.2",
"protein_id": "NP_001315581.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 404,
"cds_start": 797,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.554G>A",
"hgvs_p": "p.Arg185His",
"transcript": "NM_001328653.2",
"protein_id": "NP_001315582.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 380,
"cds_start": 554,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110His",
"transcript": "NM_001328654.2",
"protein_id": "NP_001315583.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 305,
"cds_start": 329,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 5388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "n.1496G>A",
"hgvs_p": null,
"transcript": "ENST00000488808.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "n.1293G>A",
"hgvs_p": null,
"transcript": "NR_137329.2",
"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": 5415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.764+5990G>A",
"hgvs_p": null,
"transcript": "NM_001303429.2",
"protein_id": "NP_001290358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"dbsnp": "rs765790132",
"frequency_reference_population": 0.000037548343,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000401139,
"gnomad_genomes_af": 0.0000131529,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8776389360427856,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.782,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000262741.10",
"gene_symbol": "PIK3R3",
"hgnc_id": 8981,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000540385.2",
"gene_symbol": "P3R3URF-PIK3R3",
"hgnc_id": 54999,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Arg312His"
}
],
"clinvar_disease": "Familial cancer of breast",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Familial cancer of breast",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}