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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: 9-124021154-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=124021154&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 124021154,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000373615.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHX2",
"gene_hgnc_id": 6594,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Pro261Pro",
"transcript": "NM_004789.4",
"protein_id": "NP_004780.3",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 406,
"cds_start": 783,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": "ENST00000373615.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHX2",
"gene_hgnc_id": 6594,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Pro261Pro",
"transcript": "ENST00000373615.9",
"protein_id": "ENSP00000362717.4",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 406,
"cds_start": 783,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": "NM_004789.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHX2",
"gene_hgnc_id": 6594,
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Pro266Pro",
"transcript": "ENST00000446480.5",
"protein_id": "ENSP00000394978.1",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 411,
"cds_start": 798,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHX2",
"gene_hgnc_id": 6594,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Pro61Pro",
"transcript": "ENST00000488674.2",
"protein_id": "ENSP00000476200.1",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 114,
"cds_start": 183,
"cds_end": null,
"cds_length": 345,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 1266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHX2",
"gene_hgnc_id": 6594,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Pro261Pro",
"transcript": "XM_006717323.4",
"protein_id": "XP_006717386.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 314,
"cds_start": 783,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHX2",
"gene_hgnc_id": 6594,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Pro261Pro",
"transcript": "XM_047424082.1",
"protein_id": "XP_047280038.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 314,
"cds_start": 783,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LHX2",
"gene_hgnc_id": 6594,
"dbsnp": "rs1042486",
"frequency_reference_population": 0.44011465,
"hom_count_reference_population": 160691,
"allele_count_reference_population": 710272,
"gnomad_exomes_af": 0.445268,
"gnomad_genomes_af": 0.390572,
"gnomad_exomes_ac": 650880,
"gnomad_genomes_ac": 59392,
"gnomad_exomes_homalt": 148320,
"gnomad_genomes_homalt": 12371,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.045,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP7,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000373615.9",
"gene_symbol": "LHX2",
"hgnc_id": 6594,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Pro261Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}