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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: 4-125490341-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=125490341&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 125490341,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000394329.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.13525G>A",
"hgvs_p": "p.Ala4509Thr",
"transcript": "NM_001291303.3",
"protein_id": "NP_001278232.1",
"transcript_support_level": null,
"aa_start": 4509,
"aa_end": null,
"aa_length": 4983,
"cds_start": 13525,
"cds_end": null,
"cds_length": 14952,
"cdna_start": 14560,
"cdna_end": null,
"cdna_length": 17151,
"mane_select": "ENST00000394329.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.13525G>A",
"hgvs_p": "p.Ala4509Thr",
"transcript": "ENST00000394329.9",
"protein_id": "ENSP00000377862.4",
"transcript_support_level": 5,
"aa_start": 4509,
"aa_end": null,
"aa_length": 4983,
"cds_start": 13525,
"cds_end": null,
"cds_length": 14952,
"cdna_start": 14560,
"cdna_end": null,
"cdna_length": 17151,
"mane_select": "NM_001291303.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.8242G>A",
"hgvs_p": "p.Ala2748Thr",
"transcript": "ENST00000335110.5",
"protein_id": "ENSP00000335169.5",
"transcript_support_level": 1,
"aa_start": 2748,
"aa_end": null,
"aa_length": 3222,
"cds_start": 8242,
"cds_end": null,
"cds_length": 9669,
"cdna_start": 8242,
"cdna_end": null,
"cdna_length": 9669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.13525G>A",
"hgvs_p": "p.Ala4509Thr",
"transcript": "NM_001438396.1",
"protein_id": "NP_001425325.1",
"transcript_support_level": null,
"aa_start": 4509,
"aa_end": null,
"aa_length": 4983,
"cds_start": 13525,
"cds_end": null,
"cds_length": 14952,
"cdna_start": 14982,
"cdna_end": null,
"cdna_length": 17573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.13522G>A",
"hgvs_p": "p.Ala4508Thr",
"transcript": "NM_001291285.3",
"protein_id": "NP_001278214.1",
"transcript_support_level": null,
"aa_start": 4508,
"aa_end": null,
"aa_length": 4982,
"cds_start": 13522,
"cds_end": null,
"cds_length": 14949,
"cdna_start": 14557,
"cdna_end": null,
"cdna_length": 17148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.13522G>A",
"hgvs_p": "p.Ala4508Thr",
"transcript": "NM_001438397.1",
"protein_id": "NP_001425326.1",
"transcript_support_level": null,
"aa_start": 4508,
"aa_end": null,
"aa_length": 4982,
"cds_start": 13522,
"cds_end": null,
"cds_length": 14949,
"cdna_start": 14979,
"cdna_end": null,
"cdna_length": 17570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.13519G>A",
"hgvs_p": "p.Ala4507Thr",
"transcript": "NM_024582.6",
"protein_id": "NP_078858.4",
"transcript_support_level": null,
"aa_start": 4507,
"aa_end": null,
"aa_length": 4981,
"cds_start": 13519,
"cds_end": null,
"cds_length": 14946,
"cdna_start": 14554,
"cdna_end": null,
"cdna_length": 17145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.8296G>A",
"hgvs_p": "p.Ala2766Thr",
"transcript": "NM_001437895.1",
"protein_id": "NP_001424824.1",
"transcript_support_level": null,
"aa_start": 2766,
"aa_end": null,
"aa_length": 3240,
"cds_start": 8296,
"cds_end": null,
"cds_length": 9723,
"cdna_start": 9373,
"cdna_end": null,
"cdna_length": 11964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"hgvs_c": "c.8296G>A",
"hgvs_p": "p.Ala2766Thr",
"transcript": "ENST00000674496.2",
"protein_id": "ENSP00000501473.2",
"transcript_support_level": null,
"aa_start": 2766,
"aa_end": null,
"aa_length": 3240,
"cds_start": 8296,
"cds_end": null,
"cds_length": 9723,
"cdna_start": 9410,
"cdna_end": null,
"cdna_length": 12001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAT4",
"gene_hgnc_id": 23109,
"dbsnp": "rs1553931010",
"frequency_reference_population": 6.8404694e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84047e-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": 0.6393013596534729,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.318,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1182,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.598,
"phylop100way_prediction": "Pathogenic",
"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": "ENST00000394329.9",
"gene_symbol": "FAT4",
"hgnc_id": 23109,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13525G>A",
"hgvs_p": "p.Ala4509Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}