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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: 11-106053743-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=106053743&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KBTBD3",
"hgnc_id": 22934,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_152433.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 261,
"alphamissense_prediction": null,
"alphamissense_score": 0.0724,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.026306897401809692,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3840,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_198439.3",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000531837.2",
"protein_coding": true,
"protein_id": "NP_940841.1",
"strand": false,
"transcript": "NM_198439.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3840,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000531837.2",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198439.3",
"protein_coding": true,
"protein_id": "ENSP00000432163.1",
"strand": false,
"transcript": "ENST00000531837.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526793.5",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436262.1",
"strand": false,
"transcript": "ENST00000526793.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3639,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_152433.4",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689646.2",
"strand": false,
"transcript": "NM_152433.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000883713.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553772.1",
"strand": false,
"transcript": "ENST00000883713.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000883714.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553773.1",
"strand": false,
"transcript": "ENST00000883714.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932986.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603045.1",
"strand": false,
"transcript": "ENST00000932986.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932987.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603046.1",
"strand": false,
"transcript": "ENST00000932987.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000932988.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603047.1",
"strand": false,
"transcript": "ENST00000932988.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932989.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603048.1",
"strand": false,
"transcript": "ENST00000932989.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000963660.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633719.1",
"strand": false,
"transcript": "ENST00000963660.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000963661.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633720.1",
"strand": false,
"transcript": "ENST00000963661.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 533,
"aa_ref": "I",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3595,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1602,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001330359.2",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317288.1",
"strand": false,
"transcript": "NM_001330359.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 533,
"aa_ref": "I",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1602,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000534815.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431910.1",
"strand": false,
"transcript": "ENST00000534815.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 502,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1509,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000932985.1",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Ile206Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603044.1",
"strand": false,
"transcript": "ENST00000932985.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006718767.4",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718830.1",
"strand": false,
"transcript": "XM_006718767.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1839,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011542618.3",
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540920.1",
"strand": false,
"transcript": "XM_011542618.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs552328233",
"effect": "missense_variant",
"frequency_reference_population": 0.00016173469,
"gene_hgnc_id": 22934,
"gene_symbol": "KBTBD3",
"gnomad_exomes_ac": 218,
"gnomad_exomes_af": 0.000149164,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 43,
"gnomad_genomes_af": 0.000282386,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.869,
"pos": 106053743,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.087,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_152433.4"
}
]
}