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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: 12-88518857-CAAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=88518857&ref=CAAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 88518857,
"ref": "CAAT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000644744.1",
"consequences": [
{
"aa_ref": "HC",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "c.200_202delATT",
"hgvs_p": "p.His67_Cys68delinsArg",
"transcript": "NM_000899.5",
"protein_id": "NP_000890.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 273,
"cds_start": 200,
"cds_end": null,
"cds_length": 822,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": "ENST00000644744.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HC",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "c.200_202delATT",
"hgvs_p": "p.His67_Cys68delinsArg",
"transcript": "ENST00000644744.1",
"protein_id": "ENSP00000495951.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 273,
"cds_start": 200,
"cds_end": null,
"cds_length": 822,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": "NM_000899.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HC",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "c.200_202delATT",
"hgvs_p": "p.His67_Cys68delinsArg",
"transcript": "ENST00000347404.10",
"protein_id": "ENSP00000054216.5",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 245,
"cds_start": 200,
"cds_end": null,
"cds_length": 738,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 5737,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "n.143_145delATT",
"hgvs_p": null,
"transcript": "ENST00000378535.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HC",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "c.200_202delATT",
"hgvs_p": "p.His67_Cys68delinsArg",
"transcript": "NM_003994.6",
"protein_id": "NP_003985.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 245,
"cds_start": 200,
"cds_end": null,
"cds_length": 738,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HC",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "c.47_49delATT",
"hgvs_p": "p.His16_Cys17delinsArg",
"transcript": "ENST00000552044.1",
"protein_id": "ENSP00000475042.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 23,
"cds_start": 47,
"cds_end": null,
"cds_length": 74,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 555,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "n.*201_*203delATT",
"hgvs_p": null,
"transcript": "ENST00000646633.1",
"protein_id": "ENSP00000494139.1",
"transcript_support_level": null,
"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": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "n.*201_*203delATT",
"hgvs_p": null,
"transcript": "ENST00000646633.1",
"protein_id": "ENSP00000494139.1",
"transcript_support_level": null,
"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": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"hgvs_c": "c.-47-11723_-47-11721delATT",
"hgvs_p": null,
"transcript": "ENST00000357116.4",
"protein_id": "ENSP00000474021.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KITLG",
"gene_hgnc_id": 6343,
"dbsnp": "rs864309654",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.601,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000644744.1",
"gene_symbol": "KITLG",
"hgnc_id": 6343,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.200_202delATT",
"hgvs_p": "p.His67_Cys68delinsArg"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 69",
"clinvar_classification": "no classifications from unflagged records",
"clinvar_review_status": "no classifications from unflagged records",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Autosomal dominant nonsyndromic hearing loss 69",
"pathogenicity_classification_combined": "no classifications from unflagged records",
"custom_annotations": null
}
],
"message": null
}