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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: 16-1827697-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1827697&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1827697,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000427358.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"hgvs_c": "c.459C>G",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_031208.4",
"protein_id": "NP_112485.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 221,
"cds_start": 459,
"cds_end": null,
"cds_length": 666,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": "ENST00000427358.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"hgvs_c": "c.459C>G",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000427358.5",
"protein_id": "ENSP00000398053.3",
"transcript_support_level": 6,
"aa_start": 153,
"aa_end": null,
"aa_length": 221,
"cds_start": 459,
"cds_end": null,
"cds_length": 666,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": "NM_031208.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"hgvs_c": "c.459C>G",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000382668.8",
"protein_id": "ENSP00000372114.5",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 223,
"cds_start": 459,
"cds_end": null,
"cds_length": 672,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"hgvs_c": "c.459C>G",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_001018104.3",
"protein_id": "NP_001018114.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 245,
"cds_start": 459,
"cds_end": null,
"cds_length": 738,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"hgvs_c": "c.459C>G",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000382666.6",
"protein_id": "ENSP00000372112.5",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 245,
"cds_start": 459,
"cds_end": null,
"cds_length": 738,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"hgvs_c": "c.459C>G",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_001142398.2",
"protein_id": "NP_001135870.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 223,
"cds_start": 459,
"cds_end": null,
"cds_length": 672,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Leu156Leu",
"transcript": "XM_047434729.1",
"protein_id": "XP_047290685.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 224,
"cds_start": 468,
"cds_end": null,
"cds_length": 675,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Leu156Leu",
"transcript": "XM_047434730.1",
"protein_id": "XP_047290686.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 224,
"cds_start": 468,
"cds_end": null,
"cds_length": 675,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 3249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAHD1",
"gene_hgnc_id": 14169,
"dbsnp": "rs3743852",
"frequency_reference_population": 0.13582376,
"hom_count_reference_population": 15371,
"allele_count_reference_population": 219216,
"gnomad_exomes_af": 0.136759,
"gnomad_genomes_af": 0.12685,
"gnomad_exomes_ac": 199901,
"gnomad_genomes_ac": 19315,
"gnomad_exomes_homalt": 14121,
"gnomad_genomes_homalt": 1250,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.052,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000427358.5",
"gene_symbol": "FAHD1",
"hgnc_id": 14169,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.459C>G",
"hgvs_p": "p.Leu153Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}