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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: 1-92088726-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92088726&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92088726,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001376131.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "NM_001376131.1",
"protein_id": "NP_001363060.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1792,
"cds_start": 178,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000636805.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376131.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "ENST00000636805.2",
"protein_id": "ENSP00000490161.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 1792,
"cds_start": 178,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376131.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636805.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "ENST00000342818.4",
"protein_id": "ENSP00000343686.3",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 378,
"cds_start": 178,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342818.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "n.445G>A",
"hgvs_p": null,
"transcript": "ENST00000370382.7",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000370382.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "XM_047418461.1",
"protein_id": "XP_047274417.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1795,
"cds_start": 178,
"cds_end": null,
"cds_length": 5388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418461.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "XM_047418474.1",
"protein_id": "XP_047274430.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 609,
"cds_start": 178,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "c.-234G>A",
"hgvs_p": null,
"transcript": "XM_047418464.1",
"protein_id": "XP_047274420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1658,
"cds_start": null,
"cds_end": null,
"cds_length": 4977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "c.-234G>A",
"hgvs_p": null,
"transcript": "XM_047418466.1",
"protein_id": "XP_047274422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1655,
"cds_start": null,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"hgvs_c": "n.178G>A",
"hgvs_p": null,
"transcript": "ENST00000635934.1",
"protein_id": "ENSP00000490386.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000635934.1"
}
],
"gene_symbol": "BTBD8",
"gene_hgnc_id": 21019,
"dbsnp": "rs34856868",
"frequency_reference_population": 0.024627212,
"hom_count_reference_population": 609,
"allele_count_reference_population": 39654,
"gnomad_exomes_af": 0.0251837,
"gnomad_genomes_af": 0.0192935,
"gnomad_exomes_ac": 36719,
"gnomad_genomes_ac": 2935,
"gnomad_exomes_homalt": 569,
"gnomad_genomes_homalt": 40,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005039811134338379,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.0784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.044,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001376131.1",
"gene_symbol": "BTBD8",
"hgnc_id": 21019,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}