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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: 1-46055887-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46055887&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46055887,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000262741.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.849T>C",
"hgvs_p": "p.Asn283Asn",
"transcript": "NM_003629.4",
"protein_id": "NP_003620.3",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 461,
"cds_start": 849,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": "ENST00000262741.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.849T>C",
"hgvs_p": "p.Asn283Asn",
"transcript": "ENST00000262741.10",
"protein_id": "ENSP00000262741.5",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 461,
"cds_start": 849,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": "NM_003629.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.987T>C",
"hgvs_p": "p.Asn329Asn",
"transcript": "ENST00000540385.2",
"protein_id": "ENSP00000439913.1",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 507,
"cds_start": 987,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.849T>C",
"hgvs_p": "p.Asn283Asn",
"transcript": "ENST00000372006.5",
"protein_id": "ENSP00000361075.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 461,
"cds_start": 849,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.849T>C",
"hgvs_p": "p.Asn283Asn",
"transcript": "ENST00000420542.5",
"protein_id": "ENSP00000412546.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 461,
"cds_start": 849,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1106,
"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+6042T>C",
"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": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.987T>C",
"hgvs_p": "p.Asn329Asn",
"transcript": "NM_001303427.2",
"protein_id": "NP_001290356.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 507,
"cds_start": 987,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.900T>C",
"hgvs_p": "p.Asn300Asn",
"transcript": "NM_001303428.1",
"protein_id": "NP_001290357.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 478,
"cds_start": 900,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.849T>C",
"hgvs_p": "p.Asn283Asn",
"transcript": "NM_001114172.1",
"protein_id": "NP_001107644.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 461,
"cds_start": 849,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.717T>C",
"hgvs_p": "p.Asn239Asn",
"transcript": "NM_001328648.1",
"protein_id": "NP_001315577.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 417,
"cds_start": 717,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.717T>C",
"hgvs_p": "p.Asn239Asn",
"transcript": "NM_001328649.1",
"protein_id": "NP_001315578.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 417,
"cds_start": 717,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.717T>C",
"hgvs_p": "p.Asn239Asn",
"transcript": "NM_001328650.1",
"protein_id": "NP_001315579.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 417,
"cds_start": 717,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.717T>C",
"hgvs_p": "p.Asn239Asn",
"transcript": "NM_001328651.1",
"protein_id": "NP_001315580.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 417,
"cds_start": 717,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.849T>C",
"hgvs_p": "p.Asn283Asn",
"transcript": "NM_001328652.2",
"protein_id": "NP_001315581.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 404,
"cds_start": 849,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.606T>C",
"hgvs_p": "p.Asn202Asn",
"transcript": "NM_001328653.2",
"protein_id": "NP_001315582.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 380,
"cds_start": 606,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.381T>C",
"hgvs_p": "p.Asn127Asn",
"transcript": "NM_001328654.2",
"protein_id": "NP_001315583.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 305,
"cds_start": 381,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1318,
"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.1548T>C",
"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.1345T>C",
"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+6042T>C",
"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": "rs785467",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.163,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000262741.10",
"gene_symbol": "PIK3R3",
"hgnc_id": 8981,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.849T>C",
"hgvs_p": "p.Asn283Asn"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000540385.2",
"gene_symbol": "P3R3URF-PIK3R3",
"hgnc_id": 54999,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.987T>C",
"hgvs_p": "p.Asn329Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}