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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: 1-161234427-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161234427&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161234427,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000367983.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.239-1089T>C",
"hgvs_p": null,
"transcript": "NM_005122.5",
"protein_id": "NP_005113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": "ENST00000367983.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.239-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000367983.9",
"protein_id": "ENSP00000356962.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": "NM_005122.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.239-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000367979.6",
"protein_id": "ENSP00000356958.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.239-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000367982.8",
"protein_id": "ENSP00000356961.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.239-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000428574.6",
"protein_id": "ENSP00000412672.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.239-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000442691.6",
"protein_id": "ENSP00000406493.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.152-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000367981.7",
"protein_id": "ENSP00000356960.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.152-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000511676.5",
"protein_id": "ENSP00000427175.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.152-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000412844.6",
"protein_id": "ENSP00000399361.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.239-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000367985.7",
"protein_id": "ENSP00000356965.3",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 314,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.152-1089T>C",
"hgvs_p": null,
"transcript": "ENST00000508740.5",
"protein_id": "ENSP00000423666.1",
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"cds_start": -4,
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},
{
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"consequences": [
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],
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"gene_symbol": "NR1I3",
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"transcript": "ENST00000367984.8",
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},
{
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],
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"gene_symbol": "NR1I3",
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"hgvs_c": "c.152-1089T>C",
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"transcript": "ENST00000437437.6",
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},
{
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"gene_symbol": "NR1I3",
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"hgvs_c": "c.239-1089T>C",
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},
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],
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},
{
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],
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"gene_symbol": "NR1I3",
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},
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"gene_symbol": "NR1I3",
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"hgvs_c": "c.152-1089T>C",
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"transcript": "ENST00000512372.5",
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},
{
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],
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"gene_symbol": "NR1I3",
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"hgvs_c": "c.238+1420T>C",
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"transcript": "ENST00000502985.5",
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},
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],
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],
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "n.238+1420T>C",
"hgvs_p": null,
"transcript": "ENST00000502848.5",
"protein_id": "ENSP00000426016.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "n.181+1420T>C",
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"transcript": "ENST00000503547.1",
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}
],
"gene_symbol": "NR1I3",
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"dbsnp": "rs3003596",
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"gnomad_genomes_af": 0.453145,
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"gnomad_genomes_ac": 68627,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 15741,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.504,
"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": "ENST00000367983.9",
"gene_symbol": "NR1I3",
"hgnc_id": 7969,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.239-1089T>C",
"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
}