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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: 6-100390543-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=100390543&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 100390543,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000369208.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM1",
"gene_hgnc_id": 10882,
"hgvs_c": "c.2119G>C",
"hgvs_p": "p.Asp707His",
"transcript": "NM_005068.3",
"protein_id": "NP_005059.2",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 766,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2894,
"cdna_end": null,
"cdna_length": 8428,
"mane_select": "ENST00000369208.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM1",
"gene_hgnc_id": 10882,
"hgvs_c": "c.2119G>C",
"hgvs_p": "p.Asp707His",
"transcript": "ENST00000369208.8",
"protein_id": "ENSP00000358210.4",
"transcript_support_level": 1,
"aa_start": 707,
"aa_end": null,
"aa_length": 766,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2894,
"cdna_end": null,
"cdna_length": 8428,
"mane_select": "NM_005068.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM1",
"gene_hgnc_id": 10882,
"hgvs_c": "c.2119G>C",
"hgvs_p": "p.Asp707His",
"transcript": "ENST00000262901.4",
"protein_id": "ENSP00000262901.4",
"transcript_support_level": 1,
"aa_start": 707,
"aa_end": null,
"aa_length": 766,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM1",
"gene_hgnc_id": 10882,
"hgvs_c": "c.2119G>C",
"hgvs_p": "p.Asp707His",
"transcript": "NM_001374769.1",
"protein_id": "NP_001361698.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 766,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 8181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SIM1",
"gene_hgnc_id": 10882,
"dbsnp": "rs74726213",
"frequency_reference_population": 0.0010947156,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1767,
"gnomad_exomes_af": 0.00114989,
"gnomad_genomes_af": 0.000564883,
"gnomad_exomes_ac": 1681,
"gnomad_genomes_ac": 86,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2575746774673462,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.376,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6587,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"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_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000369208.8",
"gene_symbol": "SIM1",
"hgnc_id": 10882,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2119G>C",
"hgvs_p": "p.Asp707His"
}
],
"clinvar_disease": "Inborn genetic diseases,Monogenic diabetes,Obesity due to SIM1 deficiency,Oromandibular-limb hypogenesis spectrum,SIM1-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:2",
"phenotype_combined": "Oromandibular-limb hypogenesis spectrum|not provided|Monogenic diabetes|Obesity due to SIM1 deficiency|not specified|Inborn genetic diseases|SIM1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}