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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: 15-66333236-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=66333236&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 66333236,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000319212.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.3089G>A",
"hgvs_p": "p.Gly1030Glu",
"transcript": "NM_001143688.3",
"protein_id": "NP_001137160.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 3118,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": "ENST00000319212.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.3089G>A",
"hgvs_p": "p.Gly1030Glu",
"transcript": "ENST00000319212.9",
"protein_id": "ENSP00000321711.4",
"transcript_support_level": 5,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 3118,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": "NM_001143688.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Gly947Glu",
"transcript": "ENST00000319194.9",
"protein_id": "ENSP00000321583.5",
"transcript_support_level": 1,
"aa_start": 947,
"aa_end": null,
"aa_length": 971,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 3101,
"cdna_end": null,
"cdna_length": 3763,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "n.*2599G>A",
"hgvs_p": null,
"transcript": "ENST00000530537.1",
"protein_id": "ENSP00000432407.1",
"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": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "n.*2599G>A",
"hgvs_p": null,
"transcript": "ENST00000530537.1",
"protein_id": "ENSP00000432407.1",
"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": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.3038G>A",
"hgvs_p": "p.Gly1013Glu",
"transcript": "NM_001323944.2",
"protein_id": "NP_001310873.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3038,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3310,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2909G>A",
"hgvs_p": "p.Gly970Glu",
"transcript": "NM_001323948.2",
"protein_id": "NP_001310877.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 994,
"cds_start": 2909,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Gly947Glu",
"transcript": "NM_001323936.2",
"protein_id": "NP_001310865.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 971,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2978,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Gly947Glu",
"transcript": "NM_001323945.2",
"protein_id": "NP_001310874.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 971,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 3584,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Gly947Glu",
"transcript": "NM_133375.5",
"protein_id": "NP_588616.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 971,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2711G>A",
"hgvs_p": "p.Gly904Glu",
"transcript": "NM_001323937.2",
"protein_id": "NP_001310866.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 928,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2687G>A",
"hgvs_p": "p.Gly896Glu",
"transcript": "NM_001323938.2",
"protein_id": "NP_001310867.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 920,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2687G>A",
"hgvs_p": "p.Gly896Glu",
"transcript": "NM_001323939.2",
"protein_id": "NP_001310868.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 920,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 3242,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2687G>A",
"hgvs_p": "p.Gly896Glu",
"transcript": "NM_001323941.2",
"protein_id": "NP_001310870.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 920,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 3511,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.2687G>A",
"hgvs_p": "p.Gly896Glu",
"transcript": "NM_001323946.2",
"protein_id": "NP_001310875.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 920,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Gly660Glu",
"transcript": "NM_001323940.2",
"protein_id": "NP_001310869.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 684,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Gly660Glu",
"transcript": "NM_001323943.2",
"protein_id": "NP_001310872.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 684,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 3140,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DIS3L",
"gene_hgnc_id": 28698,
"dbsnp": "rs193920782",
"frequency_reference_population": 0.0000013681051,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3453262448310852,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.1507,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.65,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000319212.9",
"gene_symbol": "DIS3L",
"hgnc_id": 28698,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3089G>A",
"hgvs_p": "p.Gly1030Glu"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}