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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: 19-49807225-A-ACAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49807225&ref=A&alt=ACAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP3"
],
"effects": [
"conservative_inframe_insertion"
],
"gene_symbol": "FUZ",
"hgnc_id": 26219,
"hgvs_c": "c.1183_1185dupCTG",
"hgvs_p": "p.Leu395dup",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001352262.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "AP2A1",
"hgnc_id": 561,
"hgvs_c": "c.*467_*468insCAG",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_014203.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP3",
"acmg_score": 1,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": "LL",
"aa_end": null,
"aa_length": 418,
"aa_ref": "L",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1257,
"cds_start": 1182,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_025129.5",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1180_1182dupCTG",
"hgvs_p": "p.Leu394dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313777.9",
"protein_coding": true,
"protein_id": "NP_079405.2",
"strand": false,
"transcript": "NM_025129.5",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 418,
"aa_ref": "L",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1257,
"cds_start": 1182,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000313777.9",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1180_1182dupCTG",
"hgvs_p": "p.Leu394dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025129.5",
"protein_coding": true,
"protein_id": "ENSP00000313309.4",
"strand": false,
"transcript": "ENST00000313777.9",
"transcript_support_level": 1
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 445,
"aa_ref": "L",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1263,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881282.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1261_1263dupCTG",
"hgvs_p": "p.Leu421dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551341.1",
"strand": false,
"transcript": "ENST00000881282.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 425,
"aa_ref": "L",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1203,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881283.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1201_1203dupCTG",
"hgvs_p": "p.Leu401dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551342.1",
"strand": false,
"transcript": "ENST00000881283.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 419,
"aa_ref": "L",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1185,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001352262.2",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1183_1185dupCTG",
"hgvs_p": "p.Leu395dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339191.1",
"strand": false,
"transcript": "NM_001352262.2",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 419,
"aa_ref": "L",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1185,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881280.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1183_1185dupCTG",
"hgvs_p": "p.Leu395dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551339.1",
"strand": false,
"transcript": "ENST00000881280.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 416,
"aa_ref": "L",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1176,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939146.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1174_1176dupCTG",
"hgvs_p": "p.Leu392dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609205.1",
"strand": false,
"transcript": "ENST00000939146.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 386,
"aa_ref": "L",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1161,
"cds_start": 1086,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881281.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1084_1086dupCTG",
"hgvs_p": "p.Leu362dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551340.1",
"strand": false,
"transcript": "ENST00000881281.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 383,
"aa_ref": "L",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1152,
"cds_start": 1077,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939148.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1075_1077dupCTG",
"hgvs_p": "p.Leu359dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609207.1",
"strand": false,
"transcript": "ENST00000939148.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 382,
"aa_ref": "L",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1149,
"cds_start": 1074,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001171937.2",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1072_1074dupCTG",
"hgvs_p": "p.Leu358dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165408.1",
"strand": false,
"transcript": "NM_001171937.2",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 382,
"aa_ref": "L",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1149,
"cds_start": 1074,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000528094.5",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1072_1074dupCTG",
"hgvs_p": "p.Leu358dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435177.1",
"strand": false,
"transcript": "ENST00000528094.5",
"transcript_support_level": 2
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 381,
"aa_ref": "L",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1146,
"cds_start": 1071,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000956086.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1069_1071dupCTG",
"hgvs_p": "p.Leu357dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626145.1",
"strand": false,
"transcript": "ENST00000956086.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 368,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1107,
"cds_start": 1032,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001363663.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1030_1032dupCTG",
"hgvs_p": "p.Leu344dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350592.1",
"strand": false,
"transcript": "NM_001363663.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 368,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1107,
"cds_start": 1032,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000533418.5",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.1030_1032dupCTG",
"hgvs_p": "p.Leu344dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431731.1",
"strand": false,
"transcript": "ENST00000533418.5",
"transcript_support_level": 5
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 353,
"aa_ref": "L",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 1062,
"cds_start": 987,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939147.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.985_987dupCTG",
"hgvs_p": "p.Leu329dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609206.1",
"strand": false,
"transcript": "ENST00000939147.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 352,
"aa_ref": "L",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1059,
"cds_start": 984,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881284.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.982_984dupCTG",
"hgvs_p": "p.Leu328dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551343.1",
"strand": false,
"transcript": "ENST00000881284.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 350,
"aa_ref": "L",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1053,
"cds_start": 978,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000956087.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.976_978dupCTG",
"hgvs_p": "p.Leu326dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626146.1",
"strand": false,
"transcript": "ENST00000956087.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 349,
"aa_ref": "L",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1050,
"cds_start": 975,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000939144.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.973_975dupCTG",
"hgvs_p": "p.Leu325dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609203.1",
"strand": false,
"transcript": "ENST00000939144.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 345,
"aa_ref": "L",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 1038,
"cds_start": 963,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939145.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.961_963dupCTG",
"hgvs_p": "p.Leu321dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609204.1",
"strand": false,
"transcript": "ENST00000939145.1",
"transcript_support_level": null
},
{
"aa_alt": "LL",
"aa_end": null,
"aa_length": 316,
"aa_ref": "L",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 951,
"cds_start": 876,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000939143.1",
"gene_hgnc_id": 26219,
"gene_symbol": "FUZ",
"hgvs_c": "c.874_876dupCTG",
"hgvs_p": "p.Leu292dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609202.1",
"strand": false,
"transcript": "ENST00000939143.1",
"transcript_support_level": null
},
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