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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: 15-69455181-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69455181&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 69455181,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000260379.11",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.159C>A",
"hgvs_p": "p.Asn53Lys",
"transcript": "NM_001003.3",
"protein_id": "NP_000994.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 114,
"cds_start": 159,
"cds_end": null,
"cds_length": 345,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": "ENST00000260379.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.159C>A",
"hgvs_p": "p.Asn53Lys",
"transcript": "ENST00000260379.11",
"protein_id": "ENSP00000346037.5",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 114,
"cds_start": 159,
"cds_end": null,
"cds_length": 345,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": "NM_001003.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Asn28Lys",
"transcript": "NM_213725.2",
"protein_id": "NP_998890.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 89,
"cds_start": 84,
"cds_end": null,
"cds_length": 270,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Asn28Lys",
"transcript": "ENST00000357790.5",
"protein_id": "ENSP00000350437.5",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 89,
"cds_start": 84,
"cds_end": null,
"cds_length": 270,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "n.1737C>A",
"hgvs_p": null,
"transcript": "ENST00000487304.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "n.715C>A",
"hgvs_p": null,
"transcript": "ENST00000488122.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.73-247C>A",
"hgvs_p": null,
"transcript": "ENST00000560274.1",
"protein_id": "ENSP00000453067.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 256,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIF23-AS1",
"gene_hgnc_id": 27075,
"hgvs_c": "n.760+6831G>T",
"hgvs_p": null,
"transcript": "ENST00000754320.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1665,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIF23-AS1",
"gene_hgnc_id": 27075,
"hgvs_c": "n.391+6831G>T",
"hgvs_p": null,
"transcript": "ENST00000754321.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1236,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIF23-AS1",
"gene_hgnc_id": 27075,
"hgvs_c": "n.419+6831G>T",
"hgvs_p": null,
"transcript": "ENST00000754322.1",
"protein_id": null,
"transcript_support_level": null,
"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": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"dbsnp": "rs144572149",
"frequency_reference_population": 0.000002512184,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000208331,
"gnomad_genomes_af": 0.00000656927,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2478824257850647,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.6806,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.472,
"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": "ENST00000260379.11",
"gene_symbol": "RPLP1",
"hgnc_id": 10372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.159C>A",
"hgvs_p": "p.Asn53Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000754320.1",
"gene_symbol": "KIF23-AS1",
"hgnc_id": 27075,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.760+6831G>T",
"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
}