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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: 11-47257387-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47257387&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NR1H3",
"hgnc_id": 7966,
"hgvs_c": "c.62-2404T>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001251934.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 16787,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 453,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": null,
"cds_end": null,
"cds_length": 1362,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616973.4",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.62-2404T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477707.1",
"strand": true,
"transcript": "ENST00000616973.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 402,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": null,
"cds_end": null,
"cds_length": 1209,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395397.7",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-92-2404T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378793.3",
"strand": true,
"transcript": "ENST00000395397.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527464.5",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "n.283-2404T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000527464.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000481889.6",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-92-2404T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433271.1",
"strand": true,
"transcript": "ENST00000481889.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 453,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": null,
"cds_end": null,
"cds_length": 1362,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001251934.2",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.62-2404T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238863.1",
"strand": true,
"transcript": "NM_001251934.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 453,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": null,
"cds_end": null,
"cds_length": 1362,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001251935.2",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.62-2404T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238864.1",
"strand": true,
"transcript": "NM_001251935.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896726.1",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-37-1793T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566785.1",
"strand": true,
"transcript": "ENST00000896726.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896727.1",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-37-1793T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566786.1",
"strand": true,
"transcript": "ENST00000896727.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": null,
"cds_end": null,
"cds_length": 1269,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932404.1",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-37-1793T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602463.1",
"strand": true,
"transcript": "ENST00000932404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 402,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": null,
"cds_end": null,
"cds_length": 1209,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130102.3",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-92-2404T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123574.1",
"strand": true,
"transcript": "NM_001130102.3",
"transcript_support_level": null
},
{
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"aa_length": 387,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000407404.5",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-37-1793T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000385801.1",
"strand": true,
"transcript": "ENST00000407404.5",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000405576.5",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000385073.1",
"strand": true,
"transcript": "ENST00000405576.5",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 7,
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"feature": "NM_001438448.1",
"gene_hgnc_id": 7966,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001425377.1",
"strand": true,
"transcript": "NM_001438448.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 606,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436778.5",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-37-1793T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403798.1",
"strand": true,
"transcript": "ENST00000436778.5",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000531660.5",
"gene_hgnc_id": 7966,
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"hgvs_c": "c.-92-2404T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000434650.1",
"strand": true,
"transcript": "ENST00000531660.5",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_011519805.3",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-37-1793T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518107.1",
"strand": true,
"transcript": "XM_011519805.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 1659,
"cdna_start": null,
"cds_end": null,
"cds_length": 1209,
"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448298.2",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "c.-92-2404T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024304066.1",
"strand": true,
"transcript": "XM_024448298.2",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
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"feature": "XM_047426198.1",
"gene_hgnc_id": 7966,
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"hgvs_c": "c.-97-2399T>C",
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"protein_coding": true,
"protein_id": "XP_047282154.1",
"strand": true,
"transcript": "XM_047426198.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
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"feature": "XM_047426201.1",
"gene_hgnc_id": 7966,
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"hgvs_c": "c.-226-609T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047282157.1",
"strand": true,
"transcript": "XM_047426201.1",
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},
{
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"biotype": "retained_intron",
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"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000481020.5",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "n.77-2404T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481020.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000487913.5",
"gene_hgnc_id": 7966,
"gene_symbol": "NR1H3",
"hgvs_c": "n.74-3854T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000487913.5",
"transcript_support_level": 2
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": null,
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