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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: 12-117471192-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=117471192&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 117471192,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_173598.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR2",
"gene_hgnc_id": 18610,
"hgvs_c": "c.2711C>T",
"hgvs_p": "p.Ser904Leu",
"transcript": "NM_173598.6",
"protein_id": "NP_775869.4",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 950,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339824.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173598.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR2",
"gene_hgnc_id": 18610,
"hgvs_c": "c.2711C>T",
"hgvs_p": "p.Ser904Leu",
"transcript": "ENST00000339824.7",
"protein_id": "ENSP00000339952.4",
"transcript_support_level": 5,
"aa_start": 904,
"aa_end": null,
"aa_length": 950,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173598.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339824.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR2",
"gene_hgnc_id": 18610,
"hgvs_c": "c.2705C>T",
"hgvs_p": "p.Ser902Leu",
"transcript": "XM_011538224.4",
"protein_id": "XP_011536526.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 948,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538224.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR2",
"gene_hgnc_id": 18610,
"hgvs_c": "c.2711C>T",
"hgvs_p": "p.Ser904Leu",
"transcript": "XM_017019208.3",
"protein_id": "XP_016874697.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 936,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019208.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR2",
"gene_hgnc_id": 18610,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Ser783Leu",
"transcript": "XM_011538225.4",
"protein_id": "XP_011536527.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 829,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538225.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR2",
"gene_hgnc_id": 18610,
"hgvs_c": "c.1406C>T",
"hgvs_p": "p.Ser469Leu",
"transcript": "XM_017019210.3",
"protein_id": "XP_016874699.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 515,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019210.3"
}
],
"gene_symbol": "KSR2",
"gene_hgnc_id": 18610,
"dbsnp": "rs201637020",
"frequency_reference_population": 0.0015225218,
"hom_count_reference_population": 18,
"allele_count_reference_population": 2457,
"gnomad_exomes_af": 0.00153272,
"gnomad_genomes_af": 0.00142471,
"gnomad_exomes_ac": 2240,
"gnomad_genomes_ac": 217,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00919082760810852,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7379999756813049,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.357,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1489,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.847,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.991841314583918,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_173598.6",
"gene_symbol": "KSR2",
"hgnc_id": 18610,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2711C>T",
"hgvs_p": "p.Ser904Leu"
}
],
"clinvar_disease": "KSR2-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided|KSR2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}