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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: 17-519236-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=519236&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "VPS53",
"hgnc_id": 25608,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Pro797Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001128159.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6399999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 832,
"aa_ref": "P",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13089,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2391,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001128159.3",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Pro797Pro",
"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": "P",
"aa_end": null,
"aa_length": 832,
"aa_ref": "P",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13089,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2391,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000437048.7",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Pro797Pro",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 490,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000541903.7",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "n.377G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000541903.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 782,
"aa_ref": "P",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2241,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000681510.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.2241G>T",
"hgvs_p": "p.Pro747Pro",
"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": "P",
"aa_end": null,
"aa_length": 709,
"aa_ref": "P",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13499,
"cdna_start": 2931,
"cds_end": null,
"cds_length": 2130,
"cds_start": 2022,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000681160.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.2022G>T",
"hgvs_p": "p.Pro674Pro",
"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": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "P",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1985,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1860,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000681917.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1860G>T",
"hgvs_p": "p.Pro620Pro",
"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": "P",
"aa_end": null,
"aa_length": 242,
"aa_ref": "P",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 926,
"cdna_start": 813,
"cds_end": null,
"cds_length": 729,
"cds_start": 621,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000681103.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.621G>T",
"hgvs_p": "p.Pro207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505892.1",
"strand": false,
"transcript": "ENST00000681103.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 832,
"aa_ref": "P",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7775,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2391,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047436344.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Pro797Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292300.1",
"strand": false,
"transcript": "XM_047436344.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 803,
"aa_ref": "P",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7688,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2304,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047436345.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.2304G>T",
"hgvs_p": "p.Pro768Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292301.1",
"strand": false,
"transcript": "XM_047436345.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "P",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7632,
"cdna_start": 2378,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2265,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047436346.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.2265G>T",
"hgvs_p": "p.Pro755Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292302.1",
"strand": false,
"transcript": "XM_047436346.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 641,
"aa_ref": "P",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7076,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047436347.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1818G>T",
"hgvs_p": "p.Pro606Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292303.1",
"strand": false,
"transcript": "XM_047436347.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 641,
"aa_ref": "P",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7138,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047436348.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1818G>T",
"hgvs_p": "p.Pro606Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292304.1",
"strand": false,
"transcript": "XM_047436348.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 634,
"aa_ref": "P",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7135,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1797,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047436349.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.1797G>T",
"hgvs_p": "p.Pro599Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292305.1",
"strand": false,
"transcript": "XM_047436349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 233,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": null,
"cds_end": null,
"cds_length": 702,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000681858.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.*56G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505044.1",
"strand": false,
"transcript": "ENST00000681858.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 680,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": null,
"cds_end": null,
"cds_length": 2043,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681317.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "c.2016-777G>T",
"hgvs_p": null,
"intron_rank": 18,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000576149.5",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "n.*1912G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505114.1",
"strand": false,
"transcript": "ENST00000576149.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3546,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679447.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "n.415G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000679447.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679468.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000679468.1",
"transcript_support_level": null
},
{
"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": 3235,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000680465.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "n.2391G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505997.1",
"strand": false,
"transcript": "ENST00000680465.1",
"transcript_support_level": null
},
{
"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": 4536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000680641.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "n.*3640G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505237.1",
"strand": false,
"transcript": "ENST00000680641.1",
"transcript_support_level": null
},
{
"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": 5413,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000680872.1",
"gene_hgnc_id": 25608,
"gene_symbol": "VPS53",
"hgvs_c": "n.*1517G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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