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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: 11-106053034-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=106053034&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 106053034,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152433.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "NM_198439.3",
"protein_id": "NP_940841.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000531837.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198439.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000531837.2",
"protein_id": "ENSP00000432163.1",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198439.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531837.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000526793.5",
"protein_id": "ENSP00000436262.1",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526793.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "NM_152433.4",
"protein_id": "NP_689646.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152433.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000883713.1",
"protein_id": "ENSP00000553772.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883713.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000883714.1",
"protein_id": "ENSP00000553773.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883714.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000932986.1",
"protein_id": "ENSP00000603045.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932986.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000932987.1",
"protein_id": "ENSP00000603046.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932987.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000932988.1",
"protein_id": "ENSP00000603047.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932988.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000932989.1",
"protein_id": "ENSP00000603048.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932989.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000963660.1",
"protein_id": "ENSP00000633719.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963660.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000963661.1",
"protein_id": "ENSP00000633720.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963661.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Lys473Arg",
"transcript": "NM_001330359.2",
"protein_id": "NP_001317288.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 533,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330359.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Lys473Arg",
"transcript": "ENST00000534815.1",
"protein_id": "ENSP00000431910.1",
"transcript_support_level": 5,
"aa_start": 473,
"aa_end": null,
"aa_length": 533,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534815.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Lys442Arg",
"transcript": "ENST00000932985.1",
"protein_id": "ENSP00000603044.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 502,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932985.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "XM_006718767.4",
"protein_id": "XP_006718830.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718767.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "XM_011542618.3",
"protein_id": "XP_011540920.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 612,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542618.3"
}
],
"gene_symbol": "KBTBD3",
"gene_hgnc_id": 22934,
"dbsnp": null,
"frequency_reference_population": 0.00001710658,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000171066,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16203176975250244,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.0912,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.755,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152433.4",
"gene_symbol": "KBTBD3",
"hgnc_id": 22934,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}