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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: 16-88697611-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88697611&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 88697611,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_178841.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"transcript": "NM_178841.4",
"protein_id": "NP_849163.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 237,
"cds_start": 671,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312838.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178841.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"transcript": "ENST00000312838.9",
"protein_id": "ENSP00000326095.4",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 237,
"cds_start": 671,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178841.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312838.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "ENST00000956472.1",
"protein_id": "ENSP00000626531.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 236,
"cds_start": 668,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956472.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ala219Val",
"transcript": "ENST00000878562.1",
"protein_id": "ENSP00000548621.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 232,
"cds_start": 656,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878562.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ala143Val",
"transcript": "NM_001171815.2",
"protein_id": "NP_001165286.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 156,
"cds_start": 428,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171815.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ala143Val",
"transcript": "ENST00000567844.1",
"protein_id": "ENSP00000457336.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 156,
"cds_start": 428,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567844.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Ala115Val",
"transcript": "NM_001171816.2",
"protein_id": "NP_001165287.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 128,
"cds_start": 344,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171816.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Ala115Val",
"transcript": "ENST00000537718.6",
"protein_id": "ENSP00000446301.2",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 128,
"cds_start": 344,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537718.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Ala115Val",
"transcript": "ENST00000541206.6",
"protein_id": "ENSP00000440454.2",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 128,
"cds_start": 344,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541206.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.1010C>T",
"hgvs_p": "p.Ala337Val",
"transcript": "XM_011522845.3",
"protein_id": "XP_011521147.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 350,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522845.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Ala115Val",
"transcript": "XM_047433580.1",
"protein_id": "XP_047289536.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 128,
"cds_start": 344,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.*714C>T",
"hgvs_p": null,
"transcript": "ENST00000568683.5",
"protein_id": "ENSP00000457374.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568683.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.*9C>T",
"hgvs_p": null,
"transcript": "XM_047433578.1",
"protein_id": "XP_047289534.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"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_047433578.1"
},
{
"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": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.363-973C>T",
"hgvs_p": null,
"transcript": "ENST00000562544.1",
"protein_id": "ENSP00000455539.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562544.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "c.102-902C>T",
"hgvs_p": null,
"transcript": "ENST00000567408.1",
"protein_id": "ENSP00000455617.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"hgvs_c": "n.273C>T",
"hgvs_p": null,
"transcript": "ENST00000565083.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000565083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259813",
"gene_hgnc_id": null,
"hgvs_c": "n.144-930G>A",
"hgvs_p": null,
"transcript": "ENST00000561699.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000561699.1"
}
],
"gene_symbol": "RNF166",
"gene_hgnc_id": 28856,
"dbsnp": "rs367841158",
"frequency_reference_population": 0.000025129093,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000271472,
"gnomad_genomes_af": 0.00000656978,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2978978157043457,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.4905,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.444,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": "NM_178841.4",
"gene_symbol": "RNF166",
"hgnc_id": 28856,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000561699.1",
"gene_symbol": "ENSG00000259813",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144-930G>A",
"hgvs_p": null
}
],
"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
}