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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: 9-98371467-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=98371467&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 98371467,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000259455.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.1767G>A",
"hgvs_p": "p.Lys589Lys",
"transcript": "NM_005458.8",
"protein_id": "NP_005449.5",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 941,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": "ENST00000259455.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.1767G>A",
"hgvs_p": "p.Lys589Lys",
"transcript": "ENST00000259455.4",
"protein_id": "ENSP00000259455.2",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 941,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": "NM_005458.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"transcript": "ENST00000634457.1",
"protein_id": "ENSP00000489352.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 182,
"cds_start": 105,
"cds_end": null,
"cds_length": 550,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.1473G>A",
"hgvs_p": "p.Lys491Lys",
"transcript": "XM_017015331.3",
"protein_id": "XP_016870820.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 843,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Lys331Lys",
"transcript": "XM_005252316.6",
"protein_id": "XP_005252373.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 683,
"cds_start": 993,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 4794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Lys331Lys",
"transcript": "XM_017015332.3",
"protein_id": "XP_016870821.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 683,
"cds_start": 993,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 4747,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "n.272G>A",
"hgvs_p": null,
"transcript": "ENST00000634314.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 558,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "n.262G>A",
"hgvs_p": null,
"transcript": "ENST00000635462.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 631,
"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": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "n.1545G>A",
"hgvs_p": null,
"transcript": "ENST00000637410.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"dbsnp": "rs150053493",
"frequency_reference_population": 0.00040162486,
"hom_count_reference_population": 2,
"allele_count_reference_population": 613,
"gnomad_exomes_af": 0.00041557,
"gnomad_genomes_af": 0.000275804,
"gnomad_exomes_ac": 571,
"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"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": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.965,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000259455.4",
"gene_symbol": "GABBR2",
"hgnc_id": 4507,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1767G>A",
"hgvs_p": "p.Lys589Lys"
}
],
"clinvar_disease": "Epileptic encephalopathy,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Epileptic encephalopathy|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}