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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: 17-15314120-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15314120&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15314120,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000395930.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Gly282Ala",
"transcript": "NM_031898.3",
"protein_id": "NP_114104.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 490,
"cds_start": 845,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": "ENST00000395930.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Gly282Ala",
"transcript": "ENST00000395930.6",
"protein_id": "ENSP00000379263.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 490,
"cds_start": 845,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": "NM_031898.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Gly282Ala",
"transcript": "ENST00000338696.6",
"protein_id": "ENSP00000343995.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 490,
"cds_start": 845,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.347G>C",
"hgvs_p": "p.Gly116Ala",
"transcript": "ENST00000539245.5",
"protein_id": "ENSP00000443280.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 192,
"cds_start": 347,
"cds_end": null,
"cds_length": 580,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Gly282Ala",
"transcript": "XM_011523988.3",
"protein_id": "XP_011522290.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 490,
"cds_start": 845,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Gly282Ala",
"transcript": "XM_011523989.2",
"protein_id": "XP_011522291.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 490,
"cds_start": 845,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Gly282Ala",
"transcript": "XM_017024954.2",
"protein_id": "XP_016880443.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 490,
"cds_start": 845,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.347G>C",
"hgvs_p": "p.Gly116Ala",
"transcript": "XM_011523990.3",
"protein_id": "XP_011522292.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 324,
"cds_start": 347,
"cds_end": null,
"cds_length": 975,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "c.347G>C",
"hgvs_p": "p.Gly116Ala",
"transcript": "XM_017024955.2",
"protein_id": "XP_016880444.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 324,
"cds_start": 347,
"cds_end": null,
"cds_length": 975,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "n.*145G>C",
"hgvs_p": null,
"transcript": "ENST00000395931.6",
"protein_id": "ENSP00000379264.2",
"transcript_support_level": 5,
"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": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"hgvs_c": "n.*145G>C",
"hgvs_p": null,
"transcript": "ENST00000395931.6",
"protein_id": "ENSP00000379264.2",
"transcript_support_level": 5,
"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": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TEKT3",
"gene_hgnc_id": 14293,
"dbsnp": "rs230898",
"frequency_reference_population": 0.4786182,
"hom_count_reference_population": 187679,
"allele_count_reference_population": 772462,
"gnomad_exomes_af": 0.483597,
"gnomad_genomes_af": 0.430767,
"gnomad_exomes_ac": 706938,
"gnomad_genomes_ac": 65524,
"gnomad_exomes_homalt": 173060,
"gnomad_genomes_homalt": 14619,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004557818174362183,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.1029,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.86,
"phylop100way_prediction": "Uncertain_significance",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000395930.6",
"gene_symbol": "TEKT3",
"hgnc_id": 14293,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Gly282Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}