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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: 5-15928354-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=15928354&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 15928354,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012304.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"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": "FBXL7",
"gene_hgnc_id": 13604,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Trp",
"transcript": "NM_012304.5",
"protein_id": "NP_036436.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 491,
"cds_start": 592,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000504595.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012304.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "FBXL7",
"gene_hgnc_id": 13604,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Trp",
"transcript": "ENST00000504595.2",
"protein_id": "ENSP00000423630.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 491,
"cds_start": 592,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012304.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504595.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "FBXL7",
"gene_hgnc_id": 13604,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"transcript": "ENST00000510662.1",
"protein_id": "ENSP00000425184.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 444,
"cds_start": 451,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510662.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL7",
"gene_hgnc_id": 13604,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Trp",
"transcript": "ENST00000329673.8",
"protein_id": "ENSP00000329632.8",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 449,
"cds_start": 466,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329673.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "FBXL7",
"gene_hgnc_id": 13604,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"transcript": "NM_001278317.2",
"protein_id": "NP_001265246.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 444,
"cds_start": 451,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278317.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "FBXL7",
"gene_hgnc_id": 13604,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "XM_017009262.3",
"protein_id": "XP_016864751.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 486,
"cds_start": 577,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009262.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "FBXL7",
"gene_hgnc_id": 13604,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"transcript": "XM_011513998.2",
"protein_id": "XP_011512300.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 444,
"cds_start": 451,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513998.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL7",
"gene_hgnc_id": 13604,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"transcript": "XM_047417000.1",
"protein_id": "XP_047272956.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 444,
"cds_start": 451,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417000.1"
}
],
"gene_symbol": "FBXL7",
"gene_hgnc_id": 13604,
"dbsnp": "rs369795247",
"frequency_reference_population": 0.000034081684,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000342105,
"gnomad_genomes_af": 0.000032845,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6401267647743225,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.36,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3741,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.501,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012304.5",
"gene_symbol": "FBXL7",
"hgnc_id": 13604,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Trp"
}
],
"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
}