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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: 3-182964065-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=182964065&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 182964065,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000292782.9",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.221-16A>C",
"hgvs_p": null,
"transcript": "NM_020640.4",
"protein_id": "NP_065691.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7849,
"mane_select": "ENST00000292782.9",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.221-16A>C",
"hgvs_p": null,
"transcript": "ENST00000292782.9",
"protein_id": "ENSP00000292782.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7849,
"mane_select": "NM_020640.4",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "ENST00000632685.1",
"protein_id": "ENSP00000488427.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3147,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "NM_001308101.2",
"protein_id": "NP_001295030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7895,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "ENST00000460412.6",
"protein_id": "ENSP00000419440.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2326,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "ENST00000469954.5",
"protein_id": "ENSP00000419359.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 970,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "ENST00000497606.5",
"protein_id": "ENSP00000417675.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "ENST00000487822.5",
"protein_id": "ENSP00000418913.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "ENST00000466812.1",
"protein_id": "ENSP00000420073.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": -4,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "n.79-16A>C",
"hgvs_p": null,
"transcript": "ENST00000492563.1",
"protein_id": "ENSP00000418935.1",
"transcript_support_level": 5,
"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": 659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.632-16A>C",
"hgvs_p": null,
"transcript": "XM_024453601.2",
"protein_id": "XP_024309369.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 396,
"cds_start": -4,
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"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8260,
"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,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.221-16A>C",
"hgvs_p": null,
"transcript": "XM_011512912.3",
"protein_id": "XP_011511214.1",
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"feature": null
},
{
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"strand": false,
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"intron_variant"
],
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.221-16A>C",
"hgvs_p": null,
"transcript": "XM_047448338.1",
"protein_id": "XP_047304294.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.260-16A>C",
"hgvs_p": null,
"transcript": "XM_047448339.1",
"protein_id": "XP_047304295.1",
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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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "XM_011512914.2",
"protein_id": "XP_011511216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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
},
{
"aa_ref": 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": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "XM_011512915.3",
"protein_id": "XP_011511217.1",
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},
{
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"consequences": [
"intron_variant"
],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "XM_011512916.3",
"protein_id": "XP_011511218.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "XM_017006634.1",
"protein_id": "XP_016862123.1",
"transcript_support_level": null,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.176-16A>C",
"hgvs_p": null,
"transcript": "XM_047448340.1",
"protein_id": "XP_047304296.1",
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3307,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"dbsnp": "rs4859147",
"frequency_reference_population": 0.0000034552722,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000345527,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.113,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000292782.9",
"gene_symbol": "DCUN1D1",
"hgnc_id": 18184,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.221-16A>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
}