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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: 9-94606815-TGG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=94606815&ref=TGG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 94606815,
"ref": "TGG",
"alt": "T",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000375326.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.703_704delCC",
"hgvs_p": "p.Pro235fs",
"transcript": "NM_000507.4",
"protein_id": "NP_000498.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 338,
"cds_start": 703,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": "ENST00000375326.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.703_704delCC",
"hgvs_p": "p.Pro235fs",
"transcript": "ENST00000375326.9",
"protein_id": "ENSP00000364475.5",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 338,
"cds_start": 703,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": "NM_000507.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.703_704delCC",
"hgvs_p": "p.Pro235fs",
"transcript": "NM_001127628.2",
"protein_id": "NP_001121100.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 338,
"cds_start": 703,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.703_704delCC",
"hgvs_p": "p.Pro235fs",
"transcript": "ENST00000415431.5",
"protein_id": "ENSP00000408025.1",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 338,
"cds_start": 703,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.508_509delCC",
"hgvs_p": "p.Pro170fs",
"transcript": "ENST00000648117.1",
"protein_id": "ENSP00000498145.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 273,
"cds_start": 508,
"cds_end": null,
"cds_length": 822,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.451_452delCC",
"hgvs_p": "p.Pro151fs",
"transcript": "ENST00000414122.1",
"protein_id": "ENSP00000411619.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 150,
"cds_start": 451,
"cds_end": null,
"cds_length": 453,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.457_458delCC",
"hgvs_p": "p.Pro153fs",
"transcript": "XM_006717005.5",
"protein_id": "XP_006717068.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 256,
"cds_start": 457,
"cds_end": null,
"cds_length": 771,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "n.*140_*141delCC",
"hgvs_p": null,
"transcript": "ENST00000682520.1",
"protein_id": "ENSP00000507547.1",
"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": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "n.*140_*141delCC",
"hgvs_p": null,
"transcript": "ENST00000682520.1",
"protein_id": "ENSP00000507547.1",
"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": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"dbsnp": "rs774362519",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"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": 1.924,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000375326.9",
"gene_symbol": "FBP1",
"hgnc_id": 3606,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.703_704delCC",
"hgvs_p": "p.Pro235fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}