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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: 4-152975008-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=152975008&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 152975008,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000511601.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHDC1",
"gene_hgnc_id": 29363,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Trp",
"transcript": "NM_001371116.1",
"protein_id": "NP_001358045.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1143,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": "ENST00000511601.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHDC1",
"gene_hgnc_id": 29363,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Trp",
"transcript": "ENST00000511601.6",
"protein_id": "ENSP00000427567.1",
"transcript_support_level": 5,
"aa_start": 573,
"aa_end": null,
"aa_length": 1143,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": "NM_001371116.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHDC1",
"gene_hgnc_id": 29363,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Trp",
"transcript": "NM_033393.3",
"protein_id": "NP_203751.2",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1143,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 6593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHDC1",
"gene_hgnc_id": 29363,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Trp",
"transcript": "XM_011532389.2",
"protein_id": "XP_011530691.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1143,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 6759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHDC1",
"gene_hgnc_id": 29363,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Trp",
"transcript": "XM_047416335.1",
"protein_id": "XP_047272291.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1143,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 6160,
"cdna_end": null,
"cdna_length": 10823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHDC1",
"gene_hgnc_id": 29363,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Trp",
"transcript": "XM_047416336.1",
"protein_id": "XP_047272292.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1143,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 7318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHDC1",
"gene_hgnc_id": 29363,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Trp",
"transcript": "XM_047416337.1",
"protein_id": "XP_047272293.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 1088,
"cds_start": 1552,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FHDC1",
"gene_hgnc_id": 29363,
"dbsnp": "rs77708442",
"frequency_reference_population": 0.0012526463,
"hom_count_reference_population": 55,
"allele_count_reference_population": 2020,
"gnomad_exomes_af": 0.00127575,
"gnomad_genomes_af": 0.00103108,
"gnomad_exomes_ac": 1863,
"gnomad_genomes_ac": 157,
"gnomad_exomes_homalt": 54,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004883855581283569,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.0797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.472,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000511601.6",
"gene_symbol": "FHDC1",
"hgnc_id": 29363,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}