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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: 11-47253513-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47253513&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47253513,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001251934.2",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.61+4649G>A",
"hgvs_p": null,
"transcript": "ENST00000616973.4",
"protein_id": "ENSP00000477707.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1919,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-93+4514G>A",
"hgvs_p": null,
"transcript": "ENST00000395397.7",
"protein_id": "ENSP00000378793.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1501,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.282+4649G>A",
"hgvs_p": null,
"transcript": "ENST00000527464.5",
"protein_id": null,
"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": 1183,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-93+4514G>A",
"hgvs_p": null,
"transcript": "ENST00000481889.6",
"protein_id": "ENSP00000433271.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1704,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.61+4649G>A",
"hgvs_p": null,
"transcript": "NM_001251934.2",
"protein_id": "NP_001238863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1879,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.61+4649G>A",
"hgvs_p": null,
"transcript": "NM_001251935.2",
"protein_id": "NP_001238864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1920,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-93+4514G>A",
"hgvs_p": null,
"transcript": "NM_001130102.3",
"protein_id": "NP_001123574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1743,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-38+4514G>A",
"hgvs_p": null,
"transcript": "ENST00000407404.5",
"protein_id": "ENSP00000385801.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": -4,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1330,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-93+4514G>A",
"hgvs_p": null,
"transcript": "ENST00000405576.5",
"protein_id": "ENSP00000385073.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1352,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-138+4514G>A",
"hgvs_p": null,
"transcript": "NM_001438448.1",
"protein_id": "NP_001425377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": -4,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1287,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-38+2962G>A",
"hgvs_p": null,
"transcript": "ENST00000436778.5",
"protein_id": "ENSP00000403798.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
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"cds_length": 606,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "NR1H3",
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"hgvs_c": "c.-93+4514G>A",
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"transcript": "ENST00000531660.5",
"protein_id": "ENSP00000434650.1",
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.76+4514G>A",
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"transcript": "ENST00000481020.5",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.73+4514G>A",
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"transcript": "ENST00000487913.5",
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},
{
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"strand": true,
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"intron_variant"
],
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"hgvs_c": "n.282+4649G>A",
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"transcript": "ENST00000495866.5",
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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": 10,
"intron_rank": 2,
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"gene_symbol": "NR1H3",
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"hgvs_c": "n.230+4649G>A",
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},
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],
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"gene_symbol": "NR1H3",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-38+4514G>A",
"hgvs_p": null,
"transcript": "XM_011519805.3",
"protein_id": "XP_011518107.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-93+4413G>A",
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"transcript": "XM_024448298.2",
"protein_id": "XP_024304066.1",
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},
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"strand": true,
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],
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-226-4483G>A",
"hgvs_p": null,
"transcript": "XM_047426201.1",
"protein_id": "XP_047282157.1",
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"feature": null
}
],
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"dbsnp": "rs10838681",
"frequency_reference_population": 0.34403288,
"hom_count_reference_population": 10020,
"allele_count_reference_population": 52293,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.344033,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 52293,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10020,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.201,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001251934.2",
"gene_symbol": "NR1H3",
"hgnc_id": 7966,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.61+4649G>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
}