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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: 12-100532538-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=100532538&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 100532538,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000392986.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "NM_001206979.2",
"protein_id": "NP_001193908.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 476,
"cds_start": 526,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": "ENST00000392986.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "ENST00000392986.8",
"protein_id": "ENSP00000376712.3",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 476,
"cds_start": 526,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": "NM_001206979.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Arg186Arg",
"transcript": "ENST00000551379.5",
"protein_id": "ENSP00000447149.1",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 486,
"cds_start": 556,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Arg186Arg",
"transcript": "ENST00000188403.7",
"protein_id": "ENSP00000188403.7",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 482,
"cds_start": 556,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "ENST00000548884.5",
"protein_id": "ENSP00000448506.1",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 472,
"cds_start": 526,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "n.526C>A",
"hgvs_p": null,
"transcript": "ENST00000321046.9",
"protein_id": "ENSP00000315442.5",
"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": 1779,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.446-2352C>A",
"hgvs_p": null,
"transcript": "ENST00000549996.5",
"protein_id": "ENSP00000448978.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Arg186Arg",
"transcript": "NM_001206993.2",
"protein_id": "NP_001193922.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 486,
"cds_start": 556,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Arg186Arg",
"transcript": "NM_001206992.2",
"protein_id": "NP_001193921.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 482,
"cds_start": 556,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "NM_001206977.2",
"protein_id": "NP_001193906.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 476,
"cds_start": 526,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "ENST00000648861.1",
"protein_id": "ENSP00000496908.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 476,
"cds_start": 526,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "NM_005123.4",
"protein_id": "NP_005114.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 472,
"cds_start": 526,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "XM_011539040.3",
"protein_id": "XP_011537342.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 476,
"cds_start": 526,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "XM_047429943.1",
"protein_id": "XP_047285899.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 472,
"cds_start": 526,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Arg186Arg",
"transcript": "XM_006719719.3",
"protein_id": "XP_006719782.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 284,
"cds_start": 556,
"cds_end": null,
"cds_length": 855,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "XM_047429944.1",
"protein_id": "XP_047285900.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 274,
"cds_start": 526,
"cds_end": null,
"cds_length": 825,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "n.909C>A",
"hgvs_p": null,
"transcript": "NR_135146.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2732,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.446-2352C>A",
"hgvs_p": null,
"transcript": "NM_001206978.2",
"protein_id": "NP_001193907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2586,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"hgvs_c": "c.476-2352C>A",
"hgvs_p": null,
"transcript": "XM_011539041.3",
"protein_id": "XP_011537343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": -4,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NR1H4",
"gene_hgnc_id": 7967,
"dbsnp": "rs113090017",
"frequency_reference_population": 6.841162e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84116e-7,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"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": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.564,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392986.8",
"gene_symbol": "NR1H4",
"hgnc_id": 7967,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}