← Back to variant description
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: 5-74634926-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74634926&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 74634926,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000302351.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys",
"transcript": "NM_003633.4",
"protein_id": "NP_003624.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": "ENST00000302351.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys",
"transcript": "ENST00000302351.9",
"protein_id": "ENSP00000306356.4",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": "NM_003633.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys",
"transcript": "NM_001256574.2",
"protein_id": "NP_001243503.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys",
"transcript": "NM_001256575.2",
"protein_id": "NP_001243504.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys",
"transcript": "ENST00000618628.4",
"protein_id": "ENSP00000479101.1",
"transcript_support_level": 5,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys",
"transcript": "ENST00000651128.1",
"protein_id": "ENSP00000499185.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 4481,
"cdna_end": null,
"cdna_length": 7285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1341G>A",
"hgvs_p": "p.Lys447Lys",
"transcript": "NM_001256576.2",
"protein_id": "NP_001243505.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 516,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1341G>A",
"hgvs_p": "p.Lys447Lys",
"transcript": "ENST00000510316.5",
"protein_id": "ENSP00000423804.1",
"transcript_support_level": 2,
"aa_start": 447,
"aa_end": null,
"aa_length": 516,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 5381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys",
"transcript": "XM_011543696.4",
"protein_id": "XP_011541998.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys",
"transcript": "XM_011543697.4",
"protein_id": "XP_011541999.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 4875,
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "n.423-4934G>A",
"hgvs_p": null,
"transcript": "NR_046318.2",
"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": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"dbsnp": "rs300239",
"frequency_reference_population": 0.63937384,
"hom_count_reference_population": 331446,
"allele_count_reference_population": 1031654,
"gnomad_exomes_af": 0.640633,
"gnomad_genomes_af": 0.627267,
"gnomad_exomes_ac": 936283,
"gnomad_genomes_ac": 95371,
"gnomad_exomes_homalt": 301325,
"gnomad_genomes_homalt": 30121,
"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": 0.778,
"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": "ENST00000302351.9",
"gene_symbol": "ENC1",
"hgnc_id": 3345,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Lys520Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}