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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: 5-77693306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=77693306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 77693306,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001297738.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "NM_004607.3",
"protein_id": "NP_004598.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 108,
"cds_start": 206,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380377.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004607.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "ENST00000380377.9",
"protein_id": "ENSP00000369736.4",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 108,
"cds_start": 206,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004607.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380377.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.275G>A",
"hgvs_p": "p.Arg92His",
"transcript": "ENST00000518338.6",
"protein_id": "ENSP00000429793.2",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 131,
"cds_start": 275,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518338.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "ENST00000932729.1",
"protein_id": "ENSP00000602788.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 131,
"cds_start": 206,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932729.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "NM_001297738.2",
"protein_id": "NP_001284667.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 129,
"cds_start": 206,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297738.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "ENST00000306388.10",
"protein_id": "ENSP00000306362.6",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 129,
"cds_start": 206,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306388.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80His",
"transcript": "ENST00000517679.5",
"protein_id": "ENSP00000429083.1",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 119,
"cds_start": 239,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517679.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "ENST00000932727.1",
"protein_id": "ENSP00000602786.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 106,
"cds_start": 200,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932727.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "ENST00000932728.1",
"protein_id": "ENSP00000602787.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 98,
"cds_start": 206,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932728.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.134G>A",
"hgvs_p": "p.Arg45His",
"transcript": "ENST00000522370.1",
"protein_id": "ENSP00000429313.1",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 84,
"cds_start": 134,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.*104G>A",
"hgvs_p": null,
"transcript": "ENST00000651106.1",
"protein_id": "ENSP00000498870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651106.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.*19G>A",
"hgvs_p": null,
"transcript": "ENST00000520039.1",
"protein_id": "ENSP00000429046.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 26,
"cds_start": null,
"cds_end": null,
"cds_length": 81,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.160-1808G>A",
"hgvs_p": null,
"transcript": "NM_001297740.2",
"protein_id": "NP_001284669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297740.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "c.160-1808G>A",
"hgvs_p": null,
"transcript": "ENST00000520361.5",
"protein_id": "ENSP00000429288.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520361.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "n.79G>A",
"hgvs_p": null,
"transcript": "ENST00000517881.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000517881.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"hgvs_c": "n.419G>A",
"hgvs_p": null,
"transcript": "ENST00000518218.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000518218.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305113",
"gene_hgnc_id": null,
"hgvs_c": "n.604-1939C>T",
"hgvs_p": null,
"transcript": "ENST00000808838.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000808838.1"
}
],
"gene_symbol": "TBCA",
"gene_hgnc_id": 11579,
"dbsnp": "rs368802847",
"frequency_reference_population": 0.000023548571,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000232622,
"gnomad_genomes_af": 0.0000263002,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4305347204208374,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.501,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2267,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.686,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001297738.2",
"gene_symbol": "TBCA",
"hgnc_id": 11579,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000808838.1",
"gene_symbol": "ENSG00000305113",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.604-1939C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}