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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: Y-19730686-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=Y&pos=19730686&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KDM5D",
"hgnc_id": 11115,
"hgvs_c": "c.1371+1086G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001146705.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 197,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "Y",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1539,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6825,
"cdna_start": null,
"cds_end": null,
"cds_length": 4620,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004653.5",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1371+1086G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317961.9",
"protein_coding": true,
"protein_id": "NP_004644.2",
"strand": false,
"transcript": "NM_004653.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1539,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6825,
"cdna_start": null,
"cds_end": null,
"cds_length": 4620,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317961.9",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1371+1086G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004653.5",
"protein_coding": true,
"protein_id": "ENSP00000322408.4",
"strand": false,
"transcript": "ENST00000317961.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1570,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5579,
"cdna_start": null,
"cds_end": null,
"cds_length": 4713,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541639.5",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1371+1086G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444293.1",
"strand": false,
"transcript": "ENST00000541639.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1482,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5134,
"cdna_start": null,
"cds_end": null,
"cds_length": 4449,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382806.6",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1200+1086G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372256.2",
"strand": false,
"transcript": "ENST00000382806.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1576,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5379,
"cdna_start": null,
"cds_end": null,
"cds_length": 4731,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893732.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1389+1086G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563791.1",
"strand": false,
"transcript": "ENST00000893732.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1570,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6918,
"cdna_start": null,
"cds_end": null,
"cds_length": 4713,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001146705.2",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1371+1086G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001140177.1",
"strand": false,
"transcript": "NM_001146705.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": null,
"cds_end": null,
"cds_length": 4638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893734.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1389+1086G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563793.1",
"strand": false,
"transcript": "ENST00000893734.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5257,
"cdna_start": null,
"cds_end": null,
"cds_length": 4617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944747.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1371+1086G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614806.1",
"strand": false,
"transcript": "ENST00000944747.1",
"transcript_support_level": null
},
{
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"aa_length": 1526,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5232,
"cdna_start": null,
"cds_end": null,
"cds_length": 4581,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893729.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1332+1086G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563788.1",
"strand": false,
"transcript": "ENST00000893729.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5154,
"cdna_start": null,
"cds_end": null,
"cds_length": 4503,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893730.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1254+1086G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563789.1",
"strand": false,
"transcript": "ENST00000893730.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944746.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1371+1086G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000614805.1",
"strand": false,
"transcript": "ENST00000944746.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 26,
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"feature": "NM_001146706.2",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001140178.1",
"strand": false,
"transcript": "NM_001146706.2",
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},
{
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],
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"feature": "ENST00000893728.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563787.1",
"strand": false,
"transcript": "ENST00000893728.1",
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},
{
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"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000440077.5",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1248+1086G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000398543.1",
"strand": false,
"transcript": "ENST00000440077.5",
"transcript_support_level": 5
},
{
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],
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"feature": "ENST00000893727.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1371+1086G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563786.1",
"strand": false,
"transcript": "ENST00000893727.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000893733.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1065+1086G>A",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563792.1",
"strand": false,
"transcript": "ENST00000893733.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893725.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1371+1086G>A",
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"protein_coding": true,
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},
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],
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"feature": "ENST00000933680.1",
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},
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],
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"feature": "ENST00000933679.1",
"gene_hgnc_id": 11115,
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"strand": false,
"transcript": "ENST00000933679.1",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000893726.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1248+1086G>A",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563785.1",
"strand": false,
"transcript": "ENST00000893726.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 4218,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933681.1",
"gene_hgnc_id": 11115,
"gene_symbol": "KDM5D",
"hgvs_c": "c.1200+1086G>A",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603740.1",
"strand": false,
"transcript": "ENST00000933681.1",
"transcript_support_level": null
},
{
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