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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: 17-562543-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=562543&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "VPS53",
"hgnc_id": 25608,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001128159.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.56,
"chr": "17",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Pontocerebellar hypoplasia type 2E",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5600000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 832,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13089,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001128159.3",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000437048.7",
"protein_coding": true,
"protein_id": "NP_001121631.1",
"strand": false,
"transcript": "NM_001128159.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 832,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13089,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000437048.7",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128159.3",
"protein_coding": true,
"protein_id": "ENSP00000401435.2",
"strand": false,
"transcript": "ENST00000437048.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 699,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000571805.6",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459312.1",
"strand": false,
"transcript": "ENST00000571805.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 670,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1429,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000291074.10",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000291074.5",
"strand": false,
"transcript": "ENST00000291074.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1269,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000401468.7",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384294.3",
"strand": false,
"transcript": "ENST00000401468.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000389040.9",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "n.1372C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000373692.5",
"strand": false,
"transcript": "ENST00000389040.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 782,
"aa_ref": "R",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1366,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000681510.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.Arg456*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505594.1",
"strand": false,
"transcript": "ENST00000681510.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 709,
"aa_ref": "R",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13499,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1147,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000681160.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504905.1",
"strand": false,
"transcript": "ENST00000681160.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 699,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001366253.2",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353182.1",
"strand": false,
"transcript": "NM_001366253.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 680,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000681317.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505190.1",
"strand": false,
"transcript": "ENST00000681317.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 673,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000679361.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504978.1",
"strand": false,
"transcript": "ENST00000679361.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 672,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000680069.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505145.1",
"strand": false,
"transcript": "ENST00000680069.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 670,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1429,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_018289.4",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060759.2",
"strand": false,
"transcript": "NM_018289.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1968,
"cds_start": 985,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000681917.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505944.1",
"strand": false,
"transcript": "ENST00000681917.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1429,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000681154.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505866.1",
"strand": false,
"transcript": "ENST00000681154.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 643,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000681902.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505328.1",
"strand": false,
"transcript": "ENST00000681902.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1312,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000680128.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506159.1",
"strand": false,
"transcript": "ENST00000680128.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1147,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000572334.7",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506188.1",
"strand": false,
"transcript": "ENST00000572334.7",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1147,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000680704.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506453.1",
"strand": false,
"transcript": "ENST00000680704.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1057,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000681096.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506052.1",
"strand": false,
"transcript": "ENST00000681096.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1506,
"cds_start": 922,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001366254.2",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Arg308*",
"intron_rank": null,
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