← Back to variant description
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: 4-145138037-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=145138037&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 145138037,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001366057.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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.2738C>T",
"hgvs_p": "p.Pro913Leu",
"transcript": "NM_001366057.1",
"protein_id": "NP_001352986.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2738,
"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": "P",
"aa_alt": "L",
"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.2738C>T",
"hgvs_p": "p.Pro913Leu",
"transcript": "ENST00000447906.8",
"protein_id": "ENSP00000395487.2",
"transcript_support_level": 5,
"aa_start": 913,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2738,
"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": "P",
"aa_alt": "L",
"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.2759C>T",
"hgvs_p": "p.Pro920Leu",
"transcript": "ENST00000924606.1",
"protein_id": "ENSP00000594665.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2759,
"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": "P",
"aa_alt": "L",
"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.2756C>T",
"hgvs_p": "p.Pro919Leu",
"transcript": "ENST00000924608.1",
"protein_id": "ENSP00000594667.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2756,
"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": "P",
"aa_alt": "L",
"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.2735C>T",
"hgvs_p": "p.Pro912Leu",
"transcript": "ENST00000906677.1",
"protein_id": "ENSP00000576736.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2735,
"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": "P",
"aa_alt": "L",
"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.2735C>T",
"hgvs_p": "p.Pro912Leu",
"transcript": "ENST00000906678.1",
"protein_id": "ENSP00000576737.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2735,
"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": "P",
"aa_alt": "L",
"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.2732C>T",
"hgvs_p": "p.Pro911Leu",
"transcript": "ENST00000924609.1",
"protein_id": "ENSP00000594668.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2732,
"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": "P",
"aa_alt": "L",
"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.2654C>T",
"hgvs_p": "p.Pro885Leu",
"transcript": "ENST00000924610.1",
"protein_id": "ENSP00000594669.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2654,
"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": "P",
"aa_alt": "L",
"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.2651C>T",
"hgvs_p": "p.Pro884Leu",
"transcript": "ENST00000924611.1",
"protein_id": "ENSP00000594670.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2651,
"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": "P",
"aa_alt": "L",
"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.2618C>T",
"hgvs_p": "p.Pro873Leu",
"transcript": "ENST00000924605.1",
"protein_id": "ENSP00000594664.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2618,
"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": "P",
"aa_alt": "L",
"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.2543C>T",
"hgvs_p": "p.Pro848Leu",
"transcript": "NM_001102653.1",
"protein_id": "NP_001096123.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2543,
"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": "P",
"aa_alt": "L",
"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.2543C>T",
"hgvs_p": "p.Pro848Leu",
"transcript": "ENST00000454497.6",
"protein_id": "ENSP00000409279.2",
"transcript_support_level": 2,
"aa_start": 848,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2543,
"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": "P",
"aa_alt": "L",
"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.2474C>T",
"hgvs_p": "p.Pro825Leu",
"transcript": "ENST00000924607.1",
"protein_id": "ENSP00000594666.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2474,
"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": "P",
"aa_alt": "L",
"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.2759C>T",
"hgvs_p": "p.Pro920Leu",
"transcript": "XM_011532040.3",
"protein_id": "XP_011530342.2",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2759,
"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": "P",
"aa_alt": "L",
"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.2756C>T",
"hgvs_p": "p.Pro919Leu",
"transcript": "XM_011532041.3",
"protein_id": "XP_011530343.2",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2756,
"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": "P",
"aa_alt": "L",
"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.2735C>T",
"hgvs_p": "p.Pro912Leu",
"transcript": "XM_047415838.1",
"protein_id": "XP_047271794.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2735,
"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": "P",
"aa_alt": "L",
"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.2564C>T",
"hgvs_p": "p.Pro855Leu",
"transcript": "XM_011532042.4",
"protein_id": "XP_011530344.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2564,
"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+1914C>T",
"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": "rs149518451",
"frequency_reference_population": 0.000092926326,
"hom_count_reference_population": 0,
"allele_count_reference_population": 150,
"gnomad_exomes_af": 0.0000896114,
"gnomad_genomes_af": 0.000124742,
"gnomad_exomes_ac": 131,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.026110023260116577,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0724,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.038,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001366057.1",
"gene_symbol": "OTUD4",
"hgnc_id": 24949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2738C>T",
"hgvs_p": "p.Pro913Leu"
}
],
"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
}