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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: 11-102200112-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=102200112&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 102200112,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000282441.10",
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.803-5781C>T",
"hgvs_p": null,
"transcript": "NM_001130145.3",
"protein_id": "NP_001123617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": "ENST00000282441.10",
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.803-5781C>T",
"hgvs_p": null,
"transcript": "ENST00000282441.10",
"protein_id": "ENSP00000282441.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": "NM_001130145.3",
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.803-5781C>T",
"hgvs_p": null,
"transcript": "ENST00000531439.5",
"protein_id": "ENSP00000431574.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1490,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.803-5781C>T",
"hgvs_p": null,
"transcript": "NM_001282101.2",
"protein_id": "NP_001269030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5413,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.803-5781C>T",
"hgvs_p": null,
"transcript": "ENST00000615667.4",
"protein_id": "ENSP00000478927.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5398,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.803-5781C>T",
"hgvs_p": null,
"transcript": "NM_001282100.2",
"protein_id": "NP_001269029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5365,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.803-5781C>T",
"hgvs_p": null,
"transcript": "ENST00000537274.5",
"protein_id": "ENSP00000445635.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5350,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.803-5781C>T",
"hgvs_p": null,
"transcript": "NM_001195044.2",
"protein_id": "NP_001181973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5353,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.689-5781C>T",
"hgvs_p": null,
"transcript": "NM_001282099.2",
"protein_id": "NP_001269028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.689-5781C>T",
"hgvs_p": null,
"transcript": "ENST00000345877.6",
"protein_id": "ENSP00000331023.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
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"cdna_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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.689-5781C>T",
"hgvs_p": null,
"transcript": "NM_001282097.2",
"protein_id": "NP_001269026.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "YAP1",
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"transcript": "NM_001282098.2",
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},
{
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],
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"exon_count": 7,
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"gene_symbol": "YAP1",
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"hgvs_c": "c.689-5781C>T",
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"transcript": "ENST00000629586.2",
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},
{
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],
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"gene_symbol": "YAP1",
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"hgvs_c": "c.689-5781C>T",
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"transcript": "NM_006106.5",
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},
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],
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"gene_symbol": "YAP1",
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"hgvs_c": "c.689-5781C>T",
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"transcript": "ENST00000526343.5",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "YAP1",
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"hgvs_c": "c.269-5781C>T",
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"transcript": "NM_001195045.2",
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},
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],
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"gene_symbol": "YAP1",
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"hgvs_c": "c.269-5781C>T",
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"transcript": "ENST00000524575.5",
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},
{
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"strand": true,
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],
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"gene_symbol": "YAP1",
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"hgvs_c": "c.50-5781C>T",
"hgvs_p": null,
"transcript": "ENST00000529029.1",
"protein_id": "ENSP00000431626.1",
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},
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],
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"gene_symbol": "YAP1",
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"hgvs_c": "c.809-5781C>T",
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],
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"gene_symbol": "YAP1",
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "YAP1",
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"hgvs_c": "c.809-5781C>T",
"hgvs_p": null,
"transcript": "XM_005271383.4",
"protein_id": "XP_005271440.1",
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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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.275-5781C>T",
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"transcript": "XM_011542555.3",
"protein_id": "XP_011540857.1",
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"mane_select": null,
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"feature": null
}
],
"gene_symbol": "YAP1",
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"dbsnp": "rs11225163",
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"hom_count_reference_population": 10023,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.359102,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 54590,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10023,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"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": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.44,
"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": "ENST00000282441.10",
"gene_symbol": "YAP1",
"hgnc_id": 16262,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.803-5781C>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
}