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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: 17-28552389-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28552389&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28552389,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000335765.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "c.169A>C",
"hgvs_p": "p.Lys57Gln",
"transcript": "NM_005148.4",
"protein_id": "NP_005139.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 240,
"cds_start": 169,
"cds_end": null,
"cds_length": 723,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": "ENST00000335765.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "c.169A>C",
"hgvs_p": "p.Lys57Gln",
"transcript": "ENST00000335765.9",
"protein_id": "ENSP00000337040.3",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 240,
"cds_start": 169,
"cds_end": null,
"cds_length": 723,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": "NM_005148.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "c.169A>C",
"hgvs_p": "p.Lys57Gln",
"transcript": "ENST00000301032.8",
"protein_id": "ENSP00000301032.4",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 220,
"cds_start": 169,
"cds_end": null,
"cds_length": 663,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RSKR",
"gene_hgnc_id": 26314,
"hgvs_c": "n.*1195+51662A>C",
"hgvs_p": null,
"transcript": "ENST00000481916.6",
"protein_id": "ENSP00000436369.2",
"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": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "c.169A>C",
"hgvs_p": "p.Lys57Gln",
"transcript": "NM_054035.2",
"protein_id": "NP_473376.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 220,
"cds_start": 169,
"cds_end": null,
"cds_length": 663,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "c.169A>C",
"hgvs_p": "p.Lys57Gln",
"transcript": "ENST00000444148.1",
"protein_id": "ENSP00000414639.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 207,
"cds_start": 169,
"cds_end": null,
"cds_length": 624,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "c.160A>C",
"hgvs_p": "p.Lys54Gln",
"transcript": "ENST00000581945.1",
"protein_id": "ENSP00000463893.1",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 85,
"cds_start": 160,
"cds_end": null,
"cds_length": 258,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "c.169A>C",
"hgvs_p": "p.Lys57Gln",
"transcript": "XM_011525459.3",
"protein_id": "XP_011523761.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 126,
"cds_start": 169,
"cds_end": null,
"cds_length": 381,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "n.237A>C",
"hgvs_p": null,
"transcript": "ENST00000578434.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"hgvs_c": "c.-145A>C",
"hgvs_p": null,
"transcript": "NM_001330166.2",
"protein_id": "NP_001317095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": -4,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UNC119",
"gene_hgnc_id": 12565,
"dbsnp": "rs267607166",
"frequency_reference_population": 7.145644e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14564e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2733931541442871,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.1036,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.6,
"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": 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": "ENST00000335765.9",
"gene_symbol": "UNC119",
"hgnc_id": 12565,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.169A>C",
"hgvs_p": "p.Lys57Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000481916.6",
"gene_symbol": "RSKR",
"hgnc_id": 26314,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1195+51662A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}