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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: 15-44666409-CT-GG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44666409&ref=CT&alt=GG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PATL2",
"hgnc_id": 33630,
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001145112.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387263.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682850.1",
"protein_coding": true,
"protein_id": "NP_001374192.1",
"strand": false,
"transcript": "NM_001387263.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682850.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387263.1",
"protein_coding": true,
"protein_id": "ENSP00000508024.1",
"strand": false,
"transcript": "ENST00000682850.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145112.2",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138584.1",
"strand": false,
"transcript": "NM_001145112.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387261.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374190.1",
"strand": false,
"transcript": "NM_001387261.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 2243,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387262.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374191.1",
"strand": false,
"transcript": "NM_001387262.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434130.6",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416673.1",
"strand": false,
"transcript": "ENST00000434130.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890223.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560282.1",
"strand": false,
"transcript": "ENST00000890223.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890225.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560284.1",
"strand": false,
"transcript": "ENST00000890225.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890226.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560285.1",
"strand": false,
"transcript": "ENST00000890226.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890227.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560286.1",
"strand": false,
"transcript": "ENST00000890227.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890228.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560287.1",
"strand": false,
"transcript": "ENST00000890228.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941555.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1595_1596delAGinsCC",
"hgvs_p": "p.Gln532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611614.1",
"strand": false,
"transcript": "ENST00000941555.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 512,
"aa_ref": "Q",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387260.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1502_1503delAGinsCC",
"hgvs_p": "p.Gln501Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374189.1",
"strand": false,
"transcript": "NM_001387260.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 512,
"aa_ref": "Q",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387264.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1502_1503delAGinsCC",
"hgvs_p": "p.Gln501Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374193.1",
"strand": false,
"transcript": "NM_001387264.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 512,
"aa_ref": "Q",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890224.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1502_1503delAGinsCC",
"hgvs_p": "p.Gln501Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560283.1",
"strand": false,
"transcript": "ENST00000890224.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 512,
"aa_ref": "Q",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941556.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1502_1503delAGinsCC",
"hgvs_p": "p.Gln501Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611615.1",
"strand": false,
"transcript": "ENST00000941556.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "Q",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1065,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330283.2",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1028_1029delAGinsCC",
"hgvs_p": "p.Gln343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317212.1",
"strand": false,
"transcript": "NM_001330283.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "Q",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1065,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000560780.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1028_1029delAGinsCC",
"hgvs_p": "p.Gln343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453695.1",
"strand": false,
"transcript": "ENST00000560780.1",
"transcript_support_level": 2
},
{
"aa_alt": "AP",
"aa_end": null,
"aa_length": 158,
"aa_ref": "AA",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 531,
"cdna_start": 277,
"cds_end": null,
"cds_length": 477,
"cds_start": 276,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558809.1",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.276_277delAGinsCC",
"hgvs_p": "p.Ala93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453723.1",
"strand": false,
"transcript": "ENST00000558809.1",
"transcript_support_level": 3
},
{
"aa_alt": "AP",
"aa_end": null,
"aa_length": 603,
"aa_ref": "AA",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1611,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011521336.3",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
"hgvs_c": "c.1611_1612delAGinsCC",
"hgvs_p": "p.Ala538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519638.2",
"strand": false,
"transcript": "XM_011521336.3",
"transcript_support_level": null
},
{
"aa_alt": "AP",
"aa_end": null,
"aa_length": 600,
"aa_ref": "AA",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1602,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011521337.3",
"gene_hgnc_id": 33630,
"gene_symbol": "PATL2",
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