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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: 16-30930083-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30930083&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "FBXL19",
"hgnc_id": 25300,
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001282351.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 60,
"alphamissense_prediction": null,
"alphamissense_score": 0.0784,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.053546130657196045,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 674,
"aa_ref": "P",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4490,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 2025,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001382779.1",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Pro267Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338343.10",
"protein_coding": true,
"protein_id": "NP_001369708.1",
"strand": true,
"transcript": "NM_001382779.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 674,
"aa_ref": "P",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4490,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 2025,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000338343.10",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Pro267Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382779.1",
"protein_coding": true,
"protein_id": "ENSP00000339712.4",
"strand": true,
"transcript": "ENST00000338343.10",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 585,
"aa_ref": "P",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1758,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000427128.5",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397913.1",
"strand": true,
"transcript": "ENST00000427128.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": null,
"cds_end": null,
"cds_length": 1149,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282351.1",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269280.1",
"strand": true,
"transcript": "NM_001282351.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": null,
"cds_end": null,
"cds_length": 1149,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000471231.6",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458033.1",
"strand": true,
"transcript": "ENST00000471231.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 694,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3796,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 2085,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001099784.3",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.860C>T",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093254.2",
"strand": true,
"transcript": "NM_001099784.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 694,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3796,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 2085,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000562319.7",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.860C>T",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455529.2",
"strand": true,
"transcript": "ENST00000562319.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1962,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001382780.1",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Pro246Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369709.1",
"strand": true,
"transcript": "NM_001382780.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "P",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1896,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001382781.1",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Pro224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369710.1",
"strand": true,
"transcript": "NM_001382781.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "P",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1677,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000565690.5",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Pro151Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454344.1",
"strand": true,
"transcript": "ENST00000565690.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": null,
"cds_end": null,
"cds_length": 1149,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282351.1",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269280.1",
"strand": true,
"transcript": "NM_001282351.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": null,
"cds_end": null,
"cds_length": 1149,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000471231.6",
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"hgvs_c": "c.-77C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458033.1",
"strand": true,
"transcript": "ENST00000471231.6",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs781616493",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"frequency_reference_population": 0.000037262314,
"gene_hgnc_id": 25300,
"gene_symbol": "FBXL19",
"gnomad_exomes_ac": 54,
"gnomad_exomes_af": 0.000037041,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 6,
"gnomad_genomes_af": 0.0000393799,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.187,
"pos": 30930083,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.082,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.12999999523162842,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.13,
"transcript": "NM_001282351.1"
}
]
}