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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: 4-145137774-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=145137774&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 145137774,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001366057.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Ala1001Pro",
"transcript": "NM_001366057.1",
"protein_id": "NP_001352986.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447906.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366057.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Ala1001Pro",
"transcript": "ENST00000447906.8",
"protein_id": "ENSP00000395487.2",
"transcript_support_level": 5,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366057.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447906.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.3022G>C",
"hgvs_p": "p.Ala1008Pro",
"transcript": "ENST00000924606.1",
"protein_id": "ENSP00000594665.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3022,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924606.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.3019G>C",
"hgvs_p": "p.Ala1007Pro",
"transcript": "ENST00000924608.1",
"protein_id": "ENSP00000594667.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924608.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2998G>C",
"hgvs_p": "p.Ala1000Pro",
"transcript": "ENST00000906677.1",
"protein_id": "ENSP00000576736.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906677.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2998G>C",
"hgvs_p": "p.Ala1000Pro",
"transcript": "ENST00000906678.1",
"protein_id": "ENSP00000576737.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906678.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2995G>C",
"hgvs_p": "p.Ala999Pro",
"transcript": "ENST00000924609.1",
"protein_id": "ENSP00000594668.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924609.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2917G>C",
"hgvs_p": "p.Ala973Pro",
"transcript": "ENST00000924610.1",
"protein_id": "ENSP00000594669.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924610.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2914G>C",
"hgvs_p": "p.Ala972Pro",
"transcript": "ENST00000924611.1",
"protein_id": "ENSP00000594670.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924611.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2881G>C",
"hgvs_p": "p.Ala961Pro",
"transcript": "ENST00000924605.1",
"protein_id": "ENSP00000594664.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924605.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2806G>C",
"hgvs_p": "p.Ala936Pro",
"transcript": "NM_001102653.1",
"protein_id": "NP_001096123.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2806,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102653.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2806G>C",
"hgvs_p": "p.Ala936Pro",
"transcript": "ENST00000454497.6",
"protein_id": "ENSP00000409279.2",
"transcript_support_level": 2,
"aa_start": 936,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2806,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454497.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2737G>C",
"hgvs_p": "p.Ala913Pro",
"transcript": "ENST00000924607.1",
"protein_id": "ENSP00000594666.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924607.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.3022G>C",
"hgvs_p": "p.Ala1008Pro",
"transcript": "XM_011532040.3",
"protein_id": "XP_011530342.2",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3022,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532040.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.3019G>C",
"hgvs_p": "p.Ala1007Pro",
"transcript": "XM_011532041.3",
"protein_id": "XP_011530343.2",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532041.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2998G>C",
"hgvs_p": "p.Ala1000Pro",
"transcript": "XM_047415838.1",
"protein_id": "XP_047271794.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415838.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "c.2827G>C",
"hgvs_p": "p.Ala943Pro",
"transcript": "XM_011532042.4",
"protein_id": "XP_011530344.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532042.4"
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"hgvs_c": "n.2028+2177G>C",
"hgvs_p": null,
"transcript": "ENST00000455611.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000455611.6"
}
],
"gene_symbol": "OTUD4",
"gene_hgnc_id": 24949,
"dbsnp": "rs1256721513",
"frequency_reference_population": 0.000013148552,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131486,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10789605975151062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366057.1",
"gene_symbol": "OTUD4",
"hgnc_id": 24949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Ala1001Pro"
}
],
"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
}