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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: 9-34256349-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34256349&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34256349,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000402558.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.3258G>C",
"hgvs_p": "p.Gly1086Gly",
"transcript": "NM_194313.4",
"protein_id": "NP_919289.2",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3258,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 3446,
"cdna_end": null,
"cdna_length": 6295,
"mane_select": "ENST00000402558.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.3258G>C",
"hgvs_p": "p.Gly1086Gly",
"transcript": "ENST00000402558.7",
"protein_id": "ENSP00000384433.1",
"transcript_support_level": 5,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3258,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 3446,
"cdna_end": null,
"cdna_length": 6295,
"mane_select": "NM_194313.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.2856G>C",
"hgvs_p": "p.Gly952Gly",
"transcript": "ENST00000379174.7",
"protein_id": "ENSP00000368472.3",
"transcript_support_level": 5,
"aa_start": 952,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2856,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 2881,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.3351G>C",
"hgvs_p": "p.Gly1117Gly",
"transcript": "XM_011517861.3",
"protein_id": "XP_011516163.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3351,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.3258G>C",
"hgvs_p": "p.Gly1086Gly",
"transcript": "XM_011517863.4",
"protein_id": "XP_011516165.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3258,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 5387,
"cdna_end": null,
"cdna_length": 8236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.3258G>C",
"hgvs_p": "p.Gly1086Gly",
"transcript": "XM_017014697.3",
"protein_id": "XP_016870186.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3258,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 3340,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.3186G>C",
"hgvs_p": "p.Gly1062Gly",
"transcript": "XM_047423340.1",
"protein_id": "XP_047279296.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3186,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3374,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.3135G>C",
"hgvs_p": "p.Gly1045Gly",
"transcript": "XM_047423342.1",
"protein_id": "XP_047279298.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 3414,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.3042G>C",
"hgvs_p": "p.Gly1014Gly",
"transcript": "XM_047423343.1",
"protein_id": "XP_047279299.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3042,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 6079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.2391G>C",
"hgvs_p": "p.Gly797Gly",
"transcript": "XM_047423344.1",
"protein_id": "XP_047279300.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2391,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 5382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.2175G>C",
"hgvs_p": "p.Gly725Gly",
"transcript": "XM_047423345.1",
"protein_id": "XP_047279301.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2175,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"hgvs_c": "c.1884G>C",
"hgvs_p": "p.Gly628Gly",
"transcript": "XM_006716764.4",
"protein_id": "XP_006716827.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 910,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF24",
"gene_hgnc_id": 19916,
"dbsnp": "rs10814083",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06599999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.62,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000402558.7",
"gene_symbol": "KIF24",
"hgnc_id": 19916,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3258G>C",
"hgvs_p": "p.Gly1086Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}