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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: 10-13654453-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13654453&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FRMD4A",
"hgnc_id": 25491,
"hgvs_c": "c.3112C>A",
"hgvs_p": "p.Pro1038Thr",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001318337.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "PRPF18",
"hgnc_id": 17351,
"hgvs_c": "n.417G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000597920.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 34,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0904,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.775344967842102,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "P",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6861,
"cdna_start": 3422,
"cds_end": null,
"cds_length": 3120,
"cds_start": 3013,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_018027.5",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.3013C>A",
"hgvs_p": "p.Pro1005Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357447.7",
"protein_coding": true,
"protein_id": "NP_060497.3",
"strand": false,
"transcript": "NM_018027.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "P",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6861,
"cdna_start": 3422,
"cds_end": null,
"cds_length": 3120,
"cds_start": 3013,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000357447.7",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.3013C>A",
"hgvs_p": "p.Pro1005Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018027.5",
"protein_coding": true,
"protein_id": "ENSP00000350032.2",
"strand": false,
"transcript": "ENST00000357447.7",
"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": 1155,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000430721.2",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "n.603+26G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000430721.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "P",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6648,
"cdna_start": 3209,
"cds_end": null,
"cds_length": 3219,
"cds_start": 3112,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001318337.2",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.3112C>A",
"hgvs_p": "p.Pro1038Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305266.1",
"strand": false,
"transcript": "NM_001318337.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "P",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6898,
"cdna_start": 3459,
"cds_end": null,
"cds_length": 3168,
"cds_start": 3061,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001318336.2",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.3061C>A",
"hgvs_p": "p.Pro1021Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305265.1",
"strand": false,
"transcript": "NM_001318336.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "P",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 3450,
"cds_end": null,
"cds_length": 3153,
"cds_start": 3013,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000495956.3",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.3013C>A",
"hgvs_p": "p.Pro1005Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488764.2",
"strand": false,
"transcript": "ENST00000495956.3",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 730,
"aa_ref": "P",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5915,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2193,
"cds_start": 2086,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001318338.2",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.2086C>A",
"hgvs_p": "p.Pro696Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305267.1",
"strand": false,
"transcript": "NM_001318338.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": null,
"cds_end": null,
"cds_length": 609,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601460.5",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*42+26G>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473200.1",
"strand": true,
"transcript": "ENST00000601460.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25790,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425923.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*24087+26G>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281879.1",
"strand": true,
"transcript": "XM_047425923.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13238,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425924.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*11535+26G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281880.1",
"strand": true,
"transcript": "XM_047425924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7153,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425925.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*5450+26G>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281881.1",
"strand": true,
"transcript": "XM_047425925.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24593,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425926.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*22890+26G>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281882.1",
"strand": true,
"transcript": "XM_047425926.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18860,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425927.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*17157+26G>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281883.1",
"strand": true,
"transcript": "XM_047425927.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19088,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425928.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*17385+26G>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281884.1",
"strand": true,
"transcript": "XM_047425928.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24587,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425929.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*22884+26G>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281885.1",
"strand": true,
"transcript": "XM_047425929.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19217,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425930.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*17514+26G>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281886.1",
"strand": true,
"transcript": "XM_047425930.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 23029,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425931.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*21326+26G>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281887.1",
"strand": true,
"transcript": "XM_047425931.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19797,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425932.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*18094+26G>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281888.1",
"strand": true,
"transcript": "XM_047425932.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24320,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425933.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*22617+26G>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281889.1",
"strand": true,
"transcript": "XM_047425933.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 23117,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425934.1",
"gene_hgnc_id": 17351,
"gene_symbol": "PRPF18",
"hgvs_c": "c.*21414+26G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281890.1",
"strand": true,
"transcript": "XM_047425934.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12867,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
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