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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: 6-33415017-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33415017&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHF1",
"hgnc_id": 8919,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_024165.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 40,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.07,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.031372785568237305,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_024165.3",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374516.8",
"protein_coding": true,
"protein_id": "NP_077084.2",
"strand": true,
"transcript": "NM_024165.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000374516.8",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024165.3",
"protein_coding": true,
"protein_id": "ENSP00000363640.3",
"strand": true,
"transcript": "ENST00000374516.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 457,
"aa_ref": "A",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000374512.7",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1101C>T",
"hgvs_p": "p.Ala367Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363636.3",
"strand": true,
"transcript": "ENST00000374512.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "P",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859011.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Pro377Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529070.1",
"strand": true,
"transcript": "ENST00000859011.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859000.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529059.1",
"strand": true,
"transcript": "ENST00000859000.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000859002.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529061.1",
"strand": true,
"transcript": "ENST00000859002.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000927500.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597559.1",
"strand": true,
"transcript": "ENST00000927500.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000927501.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597560.1",
"strand": true,
"transcript": "ENST00000927501.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 566,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859001.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529060.1",
"strand": true,
"transcript": "ENST00000859001.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 566,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859004.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529063.1",
"strand": true,
"transcript": "ENST00000859004.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 555,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859013.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Pro359Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529072.1",
"strand": true,
"transcript": "ENST00000859013.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 541,
"aa_ref": "P",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1034,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859003.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Pro345Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529062.1",
"strand": true,
"transcript": "ENST00000859003.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "P",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859012.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1022C>T",
"hgvs_p": "p.Pro341Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529071.1",
"strand": true,
"transcript": "ENST00000859012.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859007.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1022C>T",
"hgvs_p": "p.Pro341Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529066.1",
"strand": true,
"transcript": "ENST00000859007.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859008.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Pro339Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529067.1",
"strand": true,
"transcript": "ENST00000859008.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859009.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Pro339Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529068.1",
"strand": true,
"transcript": "ENST00000859009.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000941044.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Pro339Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611103.1",
"strand": true,
"transcript": "ENST00000941044.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 514,
"aa_ref": "P",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 1545,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859015.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Pro318Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529074.1",
"strand": true,
"transcript": "ENST00000859015.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1512,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941051.1",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Pro307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611110.1",
"strand": true,
"transcript": "ENST00000941051.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 633,
"aa_ref": "P",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011514662.2",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Pro437Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512964.2",
"strand": true,
"transcript": "XM_011514662.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 632,
"aa_ref": "P",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011514663.2",
"gene_hgnc_id": 8919,
"gene_symbol": "PHF1",
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Pro437Leu",
"intron_rank": null,
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}