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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: 15-74312493-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74312493&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74312493,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000398814.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1290+16545G>A",
"hgvs_p": null,
"transcript": "NM_025055.5",
"protein_id": "NP_079331.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": "ENST00000398814.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1290+16545G>A",
"hgvs_p": null,
"transcript": "ENST00000398814.8",
"protein_id": "ENSP00000381795.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": "NM_025055.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.930+16545G>A",
"hgvs_p": null,
"transcript": "ENST00000558659.5",
"protein_id": "ENSP00000453542.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
"hgvs_p": null,
"transcript": "ENST00000635913.2",
"protein_id": "ENSP00000490425.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000277749",
"gene_hgnc_id": 58163,
"hgvs_c": "n.198-535C>T",
"hgvs_p": null,
"transcript": "ENST00000611006.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
"hgvs_p": null,
"transcript": "XM_011522085.4",
"protein_id": "XP_011520387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1038,
"cds_start": -4,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
"hgvs_p": null,
"transcript": "XM_017022623.2",
"protein_id": "XP_016878112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": -4,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
"hgvs_p": null,
"transcript": "XM_017022624.2",
"protein_id": "XP_016878113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
"hgvs_p": null,
"transcript": "XM_017022625.2",
"protein_id": "XP_016878114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 992,
"cds_start": -4,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
"hgvs_p": null,
"transcript": "XM_017022626.3",
"protein_id": "XP_016878115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
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"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
"hgvs_p": null,
"transcript": "XM_017022627.2",
"protein_id": "XP_016878116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
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"cds_length": 2910,
"cdna_start": null,
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"cdna_length": 3611,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
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"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
"hgvs_p": null,
"transcript": "XM_017022628.2",
"protein_id": "XP_016878117.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1497+16545G>A",
"hgvs_p": null,
"transcript": "XM_047433141.1",
"protein_id": "XP_047289097.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1944+16545G>A",
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"transcript": "XM_047433142.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 11,
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"gene_symbol": "CCDC33",
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"hgvs_c": "c.1308+16545G>A",
"hgvs_p": null,
"transcript": "XM_011522086.1",
"protein_id": "XP_011520388.1",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.1290+16545G>A",
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"transcript": "XM_005254692.2",
"protein_id": "XP_005254749.1",
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},
{
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],
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"intron_rank": 12,
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"gene_symbol": "CCDC33",
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"hgvs_c": "c.1290+16545G>A",
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"transcript": "XM_011522087.2",
"protein_id": "XP_011520389.1",
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 5,
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"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "c.402+16545G>A",
"hgvs_p": null,
"transcript": "XM_011522089.4",
"protein_id": "XP_011520391.1",
"transcript_support_level": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"hgvs_c": "n.2015+16545G>A",
"hgvs_p": null,
"transcript": "XR_001751401.2",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC33-AS1",
"gene_hgnc_id": 58163,
"hgvs_c": "n.174-535C>T",
"hgvs_p": null,
"transcript": "XR_007064711.1",
"protein_id": null,
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"feature": null
}
],
"gene_symbol": "CCDC33",
"gene_hgnc_id": 26552,
"dbsnp": "rs2930291",
"frequency_reference_population": 0.46936104,
"hom_count_reference_population": 18175,
"allele_count_reference_population": 71341,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.469361,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 71341,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 18175,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.77,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000398814.8",
"gene_symbol": "CCDC33",
"hgnc_id": 26552,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1290+16545G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000611006.2",
"gene_symbol": "ENSG00000277749",
"hgnc_id": 58163,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.198-535C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007064711.1",
"gene_symbol": "CCDC33-AS1",
"hgnc_id": 58163,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.174-535C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}