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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: 6-151618046-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=151618046&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC170",
"hgnc_id": 21177,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Val683Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_025059.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1616,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1978771686553955,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 715,
"aa_ref": "V",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5306,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 2148,
"cds_start": 2047,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_025059.4",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Val683Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000239374.8",
"protein_coding": true,
"protein_id": "NP_079335.2",
"strand": true,
"transcript": "NM_025059.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 715,
"aa_ref": "V",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5306,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 2148,
"cds_start": 2047,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000239374.8",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Val683Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025059.4",
"protein_coding": true,
"protein_id": "ENSP00000239374.6",
"strand": true,
"transcript": "ENST00000239374.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 708,
"aa_ref": "V",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 2127,
"cds_start": 2026,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000867015.1",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.2026G>T",
"hgvs_p": "p.Val676Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537074.1",
"strand": true,
"transcript": "ENST00000867015.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 672,
"aa_ref": "V",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000867016.1",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.1918G>T",
"hgvs_p": "p.Val640Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537075.1",
"strand": true,
"transcript": "ENST00000867016.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 648,
"aa_ref": "V",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1846,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971556.1",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.1846G>T",
"hgvs_p": "p.Val616Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641615.1",
"strand": true,
"transcript": "ENST00000971556.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 609,
"aa_ref": "V",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000867017.1",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.1729G>T",
"hgvs_p": "p.Val577Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537076.1",
"strand": true,
"transcript": "ENST00000867017.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 542,
"aa_ref": "V",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971557.1",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.1528G>T",
"hgvs_p": "p.Val510Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641616.1",
"strand": true,
"transcript": "ENST00000971557.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 721,
"aa_ref": "V",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5320,
"cdna_start": 2173,
"cds_end": null,
"cds_length": 2166,
"cds_start": 2065,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011536147.3",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Val689Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534449.1",
"strand": true,
"transcript": "XM_011536147.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 654,
"aa_ref": "V",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1864,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011536148.3",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.1864G>T",
"hgvs_p": "p.Val622Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534450.1",
"strand": true,
"transcript": "XM_011536148.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 648,
"aa_ref": "V",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5105,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1846,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047419372.1",
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"hgvs_c": "c.1846G>T",
"hgvs_p": "p.Val616Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275328.1",
"strand": true,
"transcript": "XM_047419372.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3734804",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 21177,
"gene_symbol": "CCDC170",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.568,
"pos": 151618046,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.169,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_025059.4"
}
]
}