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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: 3-56614264-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=56614264&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 56614264,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000394672.8",
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1566+514G>A",
"hgvs_p": null,
"transcript": "NM_001141947.3",
"protein_id": "NP_001135419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": "ENST00000394672.8",
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1566+514G>A",
"hgvs_p": null,
"transcript": "ENST00000394672.8",
"protein_id": "ENSP00000378167.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": "NM_001141947.3",
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1464+514G>A",
"hgvs_p": null,
"transcript": "ENST00000326595.11",
"protein_id": "ENSP00000326050.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.*854+514G>A",
"hgvs_p": null,
"transcript": "ENST00000341455.10",
"protein_id": "ENSP00000343840.6",
"transcript_support_level": 1,
"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": 3042,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1566+514G>A",
"hgvs_p": null,
"transcript": "NM_001353147.1",
"protein_id": "NP_001340076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3171,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1548+514G>A",
"hgvs_p": null,
"transcript": "NM_001353148.1",
"protein_id": "NP_001340077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": -4,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3135,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1545+514G>A",
"hgvs_p": null,
"transcript": "NM_001353149.1",
"protein_id": "NP_001340078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": -4,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3132,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1497+514G>A",
"hgvs_p": null,
"transcript": "NM_001353150.1",
"protein_id": "NP_001340079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": -4,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3084,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1467+514G>A",
"hgvs_p": null,
"transcript": "NM_001353151.1",
"protein_id": "NP_001340080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3127,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1464+514G>A",
"hgvs_p": null,
"transcript": "NM_001012506.5",
"protein_id": "NP_001012524.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
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"cds_length": 2745,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1464+514G>A",
"hgvs_p": null,
"transcript": "NM_001353152.1",
"protein_id": "NP_001340081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1464+514G>A",
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"transcript": "NM_001353153.1",
"protein_id": "NP_001340082.1",
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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": 18,
"intron_rank": 11,
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"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1437+514G>A",
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"transcript": "NM_001353154.1",
"protein_id": "NP_001340083.1",
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"aa_start": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1416+514G>A",
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"transcript": "NM_001353155.1",
"protein_id": "NP_001340084.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.669+514G>A",
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"transcript": "NM_001353156.1",
"protein_id": "NP_001340085.1",
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1434+514G>A",
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"transcript": "ENST00000422222.5",
"protein_id": "ENSP00000401451.1",
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},
{
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],
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"gene_symbol": "CCDC66",
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"hgvs_c": "c.540+514G>A",
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"transcript": "NM_001353158.1",
"protein_id": "NP_001340087.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.474+514G>A",
"hgvs_p": null,
"transcript": "NM_001353160.1",
"protein_id": "NP_001340089.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.277+514G>A",
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"transcript": "ENST00000468108.1",
"protein_id": null,
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},
{
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"strand": true,
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],
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"intron_rank": 12,
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"gene_symbol": "CCDC66",
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"hgvs_c": "n.*670+514G>A",
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"transcript": "ENST00000471681.5",
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},
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],
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"gene_symbol": "CCDC66",
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},
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.1634+514G>A",
"hgvs_p": null,
"transcript": "NR_024460.2",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.1764+514G>A",
"hgvs_p": null,
"transcript": "NR_148366.1",
"protein_id": null,
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"aa_length": null,
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},
{
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"gnomad_genomes_homalt": 8409,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.75,
"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": "ENST00000394672.8",
"gene_symbol": "CCDC66",
"hgnc_id": 27709,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1566+514G>A",
"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
}