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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: 20-17494323-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17494323&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17494323,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001195.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1749A>T",
"hgvs_p": "p.Pro583Pro",
"transcript": "NM_001195.5",
"protein_id": "NP_001186.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 665,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": "ENST00000377873.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1749A>T",
"hgvs_p": "p.Pro583Pro",
"transcript": "ENST00000377873.8",
"protein_id": "ENSP00000367104.3",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 665,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": "NM_001195.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1374A>T",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000377868.6",
"protein_id": "ENSP00000367099.2",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 540,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1641A>T",
"hgvs_p": "p.Pro547Pro",
"transcript": "NM_001424338.1",
"protein_id": "NP_001411267.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 629,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1416A>T",
"hgvs_p": "p.Pro472Pro",
"transcript": "NM_001278607.2",
"protein_id": "NP_001265536.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 554,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1374A>T",
"hgvs_p": "p.Pro458Pro",
"transcript": "NM_001161705.2",
"protein_id": "NP_001155177.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 540,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1332A>T",
"hgvs_p": "p.Pro444Pro",
"transcript": "NM_001278606.2",
"protein_id": "NP_001265535.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 526,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1332A>T",
"hgvs_p": "p.Pro444Pro",
"transcript": "NM_001278608.2",
"protein_id": "NP_001265537.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 526,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1332A>T",
"hgvs_p": "p.Pro444Pro",
"transcript": "ENST00000536626.7",
"protein_id": "ENSP00000442522.1",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 526,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"dbsnp": "rs6080718",
"frequency_reference_population": 0.00022675456,
"hom_count_reference_population": 0,
"allele_count_reference_population": 366,
"gnomad_exomes_af": 0.000110816,
"gnomad_genomes_af": 0.00134038,
"gnomad_exomes_ac": 162,
"gnomad_genomes_ac": 204,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.311,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001195.5",
"gene_symbol": "BFSP1",
"hgnc_id": 1040,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1749A>T",
"hgvs_p": "p.Pro583Pro"
}
],
"clinvar_disease": "BFSP1-related disorder,Cataract 33",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Cataract 33|BFSP1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}