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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: 5-128344493-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=128344493&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 128344493,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000262464.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Ala1079Thr",
"transcript": "NM_001999.4",
"protein_id": "NP_001990.2",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 2912,
"cds_start": 3235,
"cds_end": null,
"cds_length": 8739,
"cdna_start": 3877,
"cdna_end": null,
"cdna_length": 10927,
"mane_select": "ENST00000262464.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Ala1079Thr",
"transcript": "ENST00000262464.9",
"protein_id": "ENSP00000262464.4",
"transcript_support_level": 1,
"aa_start": 1079,
"aa_end": null,
"aa_length": 2912,
"cds_start": 3235,
"cds_end": null,
"cds_length": 8739,
"cdna_start": 3877,
"cdna_end": null,
"cdna_length": 10927,
"mane_select": "NM_001999.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Ala1046Thr",
"transcript": "ENST00000508989.5",
"protein_id": "ENSP00000425596.1",
"transcript_support_level": 2,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1473,
"cds_start": 3136,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "c.3082G>A",
"hgvs_p": "p.Ala1028Thr",
"transcript": "XM_017009228.3",
"protein_id": "XP_016864717.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 2861,
"cds_start": 3082,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 3724,
"cdna_end": null,
"cdna_length": 10774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"dbsnp": "rs774996980",
"frequency_reference_population": 0.0000013684814,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136848,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2655659317970276,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.372,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0906,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.407,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000262464.9",
"gene_symbol": "FBN2",
"hgnc_id": 3604,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Ala1079Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}