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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: 10-122336546-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=122336546&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 122336546,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001318189.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.His439Pro",
"transcript": "NM_144587.5",
"protein_id": "NP_653188.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 506,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260723.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144587.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.His439Pro",
"transcript": "ENST00000260723.6",
"protein_id": "ENSP00000260723.4",
"transcript_support_level": 2,
"aa_start": 439,
"aa_end": null,
"aa_length": 506,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144587.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260723.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "c.1319A>C",
"hgvs_p": "p.His440Pro",
"transcript": "NM_001318189.3",
"protein_id": "NP_001305118.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 507,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318189.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.His400Pro",
"transcript": "XM_011539239.3",
"protein_id": "XP_011537541.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 467,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539239.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "c.1175A>C",
"hgvs_p": "p.His392Pro",
"transcript": "XM_011539240.3",
"protein_id": "XP_011537542.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 459,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539240.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "c.1118A>C",
"hgvs_p": "p.His373Pro",
"transcript": "XM_011539241.3",
"protein_id": "XP_011537543.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 440,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539241.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "c.998A>C",
"hgvs_p": "p.His333Pro",
"transcript": "XM_011539242.3",
"protein_id": "XP_011537544.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 400,
"cds_start": 998,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539242.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "XM_017015637.2",
"protein_id": "XP_016871126.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 338,
"cds_start": 812,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015637.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"hgvs_c": "n.522A>C",
"hgvs_p": null,
"transcript": "ENST00000495370.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000495370.2"
}
],
"gene_symbol": "BTBD16",
"gene_hgnc_id": 26340,
"dbsnp": "rs1048347",
"frequency_reference_population": 0.34487864,
"hom_count_reference_population": 102119,
"allele_count_reference_population": 554678,
"gnomad_exomes_af": 0.342601,
"gnomad_genomes_af": 0.366707,
"gnomad_exomes_ac": 498943,
"gnomad_genomes_ac": 55735,
"gnomad_exomes_homalt": 91436,
"gnomad_genomes_homalt": 10683,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000005527125722437631,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0407,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.091,
"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,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001318189.3",
"gene_symbol": "BTBD16",
"hgnc_id": 26340,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1319A>C",
"hgvs_p": "p.His440Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}