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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: 17-7223152-GT-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7223152&ref=GT&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PM1",
"PM5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACADVL",
"hgnc_id": 92,
"hgvs_c": "c.1166_1167delGTinsTC",
"hgvs_p": "p.Arg389Leu",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001270447.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR324",
"hgnc_id": 31767,
"hgvs_c": "n.*144_*145delACinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_029896.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM1,PM5",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "L",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000018.4",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356839.10",
"protein_coding": true,
"protein_id": "NP_000009.1",
"strand": true,
"transcript": "NM_000018.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356839.10",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000018.4",
"protein_coding": true,
"protein_id": "ENSP00000349297.5",
"strand": true,
"transcript": "ENST00000356839.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000350303.9",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1031_1032delGTinsTC",
"hgvs_p": "p.Arg344Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344152.5",
"strand": true,
"transcript": "ENST00000350303.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270447.2",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1166_1167delGTinsTC",
"hgvs_p": "p.Arg389Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257376.1",
"strand": true,
"transcript": "NM_001270447.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543245.6",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1166_1167delGTinsTC",
"hgvs_p": "p.Arg389Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438689.2",
"strand": true,
"transcript": "ENST00000543245.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945302.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1139_1140delGTinsTC",
"hgvs_p": "p.Arg380Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615361.1",
"strand": true,
"transcript": "ENST00000945302.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883761.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1127_1128delGTinsTC",
"hgvs_p": "p.Arg376Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553820.1",
"strand": true,
"transcript": "ENST00000883761.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945308.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1121_1122delGTinsTC",
"hgvs_p": "p.Arg374Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615367.1",
"strand": true,
"transcript": "ENST00000945308.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883770.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1115_1116delGTinsTC",
"hgvs_p": "p.Arg372Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553829.1",
"strand": true,
"transcript": "ENST00000883770.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916066.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586125.1",
"strand": true,
"transcript": "ENST00000916066.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916068.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586127.1",
"strand": true,
"transcript": "ENST00000916068.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 654,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883764.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553823.1",
"strand": true,
"transcript": "ENST00000883764.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883757.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553816.1",
"strand": true,
"transcript": "ENST00000883757.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945291.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1088_1089delGTinsTC",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615350.1",
"strand": true,
"transcript": "ENST00000945291.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945298.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615357.1",
"strand": true,
"transcript": "ENST00000945298.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945297.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615356.1",
"strand": true,
"transcript": "ENST00000945297.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 647,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883762.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553821.1",
"strand": true,
"transcript": "ENST00000883762.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883763.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1097_1098delGTinsTC",
"hgvs_p": "p.Arg366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553822.1",
"strand": true,
"transcript": "ENST00000883763.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 647,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945292.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1073_1074delGTinsTC",
"hgvs_p": "p.Arg358Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615351.1",
"strand": true,
"transcript": "ENST00000945292.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1064,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945299.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1064_1065delGTinsTC",
"hgvs_p": "p.Arg355Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615358.1",
"strand": true,
"transcript": "ENST00000945299.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 642,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
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