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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: 6-1390850-GGGC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=1390850&ref=GGGC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 1390850,
"ref": "GGGC",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000645481.2",
"consequences": [
{
"aa_ref": "GD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXF2",
"gene_hgnc_id": 3810,
"hgvs_c": "c.917_919delGCG",
"hgvs_p": "p.Gly306del",
"transcript": "NM_001452.2",
"protein_id": "NP_001443.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 444,
"cds_start": 917,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": "ENST00000645481.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GD",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXF2",
"gene_hgnc_id": 3810,
"hgvs_c": "c.917_919delGCG",
"hgvs_p": "p.Gly306del",
"transcript": "ENST00000645481.2",
"protein_id": "ENSP00000496415.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 444,
"cds_start": 917,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": "NM_001452.2",
"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": "LINC01394",
"gene_hgnc_id": 50670,
"hgvs_c": "n.89+139_89+141delGCC",
"hgvs_p": null,
"transcript": "ENST00000721686.1",
"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": 998,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01394",
"gene_hgnc_id": 50670,
"hgvs_c": "n.68+139_68+141delGCC",
"hgvs_p": null,
"transcript": "ENST00000721687.1",
"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": 1185,
"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": "FOXF2-DT",
"gene_hgnc_id": 50662,
"hgvs_c": "n.68+139_68+141delGCC",
"hgvs_p": null,
"transcript": "NR_189294.1",
"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": 1985,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FOXF2-DT",
"gene_hgnc_id": 50662,
"hgvs_c": "n.68+139_68+141delGCC",
"hgvs_p": null,
"transcript": "NR_189295.1",
"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": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOXF2",
"gene_hgnc_id": 3810,
"dbsnp": "rs58230522",
"frequency_reference_population": 0.00012621829,
"hom_count_reference_population": 0,
"allele_count_reference_population": 179,
"gnomad_exomes_af": 0.000127098,
"gnomad_genomes_af": 0.000118864,
"gnomad_exomes_ac": 161,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.512,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000645481.2",
"gene_symbol": "FOXF2",
"hgnc_id": 3810,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.917_919delGCG",
"hgvs_p": "p.Gly306del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NR_189294.1",
"gene_symbol": "FOXF2-DT",
"hgnc_id": 50662,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.68+139_68+141delGCC",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000721686.1",
"gene_symbol": "LINC01394",
"hgnc_id": 50670,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.89+139_89+141delGCC",
"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
}