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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: 3-182947280-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=182947280&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 182947280,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020640.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.658A>T",
"hgvs_p": "p.Ser220Cys",
"transcript": "NM_020640.4",
"protein_id": "NP_065691.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 259,
"cds_start": 658,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292782.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020640.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.658A>T",
"hgvs_p": "p.Ser220Cys",
"transcript": "ENST00000292782.9",
"protein_id": "ENSP00000292782.4",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 259,
"cds_start": 658,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020640.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292782.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "ENST00000632685.1",
"protein_id": "ENSP00000488427.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000632685.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.658A>T",
"hgvs_p": "p.Ser220Cys",
"transcript": "ENST00000925548.1",
"protein_id": "ENSP00000595607.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 258,
"cds_start": 658,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925548.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "NM_001308101.2",
"protein_id": "NP_001295030.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308101.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "ENST00000460412.6",
"protein_id": "ENSP00000419440.2",
"transcript_support_level": 3,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460412.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "ENST00000469954.5",
"protein_id": "ENSP00000419359.1",
"transcript_support_level": 3,
"aa_start": 205,
"aa_end": null,
"aa_length": 244,
"cds_start": 613,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469954.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.238A>T",
"hgvs_p": "p.Ser80Cys",
"transcript": "ENST00000925547.1",
"protein_id": "ENSP00000595606.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 119,
"cds_start": 238,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925547.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.1069A>T",
"hgvs_p": "p.Ser357Cys",
"transcript": "XM_024453601.2",
"protein_id": "XP_024309369.2",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 396,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453601.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.658A>T",
"hgvs_p": "p.Ser220Cys",
"transcript": "XM_011512912.3",
"protein_id": "XP_011511214.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 280,
"cds_start": 658,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512912.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.658A>T",
"hgvs_p": "p.Ser220Cys",
"transcript": "XM_047448338.1",
"protein_id": "XP_047304294.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 280,
"cds_start": 658,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448338.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.697A>T",
"hgvs_p": "p.Ser233Cys",
"transcript": "XM_047448339.1",
"protein_id": "XP_047304295.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 272,
"cds_start": 697,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448339.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "XM_011512914.2",
"protein_id": "XP_011511216.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 265,
"cds_start": 613,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512914.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "XM_011512915.3",
"protein_id": "XP_011511217.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 265,
"cds_start": 613,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512915.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "XM_011512916.3",
"protein_id": "XP_011511218.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 265,
"cds_start": 613,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512916.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "XM_017006634.1",
"protein_id": "XP_016862123.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 265,
"cds_start": 613,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006634.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ser205Cys",
"transcript": "XM_047448340.1",
"protein_id": "XP_047304296.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 265,
"cds_start": 613,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448340.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "n.*408A>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"hgvs_c": "n.*408A>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492563.1"
}
],
"gene_symbol": "DCUN1D1",
"gene_hgnc_id": 18184,
"dbsnp": null,
"frequency_reference_population": 6.8584376e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85844e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7415172457695007,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.304,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.745,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020640.4",
"gene_symbol": "DCUN1D1",
"hgnc_id": 18184,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.658A>T",
"hgvs_p": "p.Ser220Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}