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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: 10-104032247-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=104032247&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 104032247,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000494.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4482T>C",
"hgvs_p": "p.Ala1494Ala",
"transcript": "NM_000494.4",
"protein_id": "NP_000485.3",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4482,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4651,
"cdna_end": null,
"cdna_length": 5612,
"mane_select": "ENST00000648076.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4482T>C",
"hgvs_p": "p.Ala1494Ala",
"transcript": "ENST00000648076.2",
"protein_id": "ENSP00000497653.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4482,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4651,
"cdna_end": null,
"cdna_length": 5612,
"mane_select": "NM_000494.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "ENST00000369733.8",
"protein_id": "ENSP00000358748.3",
"transcript_support_level": 5,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1415,
"cds_start": 4236,
"cds_end": null,
"cds_length": 4248,
"cdna_start": 4236,
"cdna_end": null,
"cdna_length": 5197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.186T>C",
"hgvs_p": "p.Ala62Ala",
"transcript": "ENST00000433822.1",
"protein_id": "ENSP00000388832.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 65,
"cds_start": 186,
"cds_end": null,
"cds_length": 198,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 537,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "n.*552T>C",
"hgvs_p": null,
"transcript": "ENST00000647647.1",
"protein_id": "ENSP00000497865.1",
"transcript_support_level": null,
"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": 1640,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "n.*552T>C",
"hgvs_p": null,
"transcript": "ENST00000647647.1",
"protein_id": "ENSP00000497865.1",
"transcript_support_level": null,
"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": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"dbsnp": "rs781259999",
"frequency_reference_population": 0.0000068158215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000061573,
"gnomad_genomes_af": 0.0000131396,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01600000075995922,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.317,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_000494.4",
"gene_symbol": "COL17A1",
"hgnc_id": 2194,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4482T>C",
"hgvs_p": "p.Ala1494Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}