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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: 3-20136945-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=20136945&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 20136945,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_003884.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"hgvs_c": "c.1754delA",
"hgvs_p": "p.Tyr585fs",
"transcript": "NM_003884.5",
"protein_id": "NP_003875.3",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 832,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263754.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003884.5"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"hgvs_c": "c.1754delA",
"hgvs_p": "p.Tyr585fs",
"transcript": "ENST00000263754.5",
"protein_id": "ENSP00000263754.4",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 832,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003884.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263754.5"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"hgvs_c": "c.1733delA",
"hgvs_p": "p.Tyr578fs",
"transcript": "ENST00000956100.1",
"protein_id": "ENSP00000626159.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 825,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956100.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"hgvs_c": "c.1661delA",
"hgvs_p": "p.Tyr554fs",
"transcript": "ENST00000956099.1",
"protein_id": "ENSP00000626158.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 801,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956099.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"hgvs_c": "c.1754delA",
"hgvs_p": "p.Tyr585fs",
"transcript": "XM_005265528.5",
"protein_id": "XP_005265585.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 741,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265528.5"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"hgvs_c": "c.1463delA",
"hgvs_p": "p.Tyr488fs",
"transcript": "XM_047449147.1",
"protein_id": "XP_047305103.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 735,
"cds_start": 1463,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"hgvs_c": "c.1750-3275delA",
"hgvs_p": null,
"transcript": "ENST00000956098.1",
"protein_id": "ENSP00000626157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"hgvs_c": "n.77delA",
"hgvs_p": null,
"transcript": "ENST00000468111.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468111.1"
}
],
"gene_symbol": "KAT2B",
"gene_hgnc_id": 8638,
"dbsnp": "rs1553598537",
"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,
"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": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003884.5",
"gene_symbol": "KAT2B",
"hgnc_id": 8638,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1754delA",
"hgvs_p": "p.Tyr585fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}