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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: 13-29324646-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=29324646&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 29324646,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001033602.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2840C>A",
"hgvs_p": "p.Thr947Lys",
"transcript": "NM_001033602.4",
"protein_id": "NP_001028774.3",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2840,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000612955.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033602.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2840C>A",
"hgvs_p": "p.Thr947Lys",
"transcript": "ENST00000612955.6",
"protein_id": "ENSP00000483729.2",
"transcript_support_level": 5,
"aa_start": 947,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2840,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001033602.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612955.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2840C>A",
"hgvs_p": "p.Thr947Lys",
"transcript": "NM_001384605.1",
"protein_id": "NP_001371534.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2840,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384605.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2840C>A",
"hgvs_p": "p.Thr947Lys",
"transcript": "NM_001384606.1",
"protein_id": "NP_001371535.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2840,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384606.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2840C>A",
"hgvs_p": "p.Thr947Lys",
"transcript": "ENST00000948542.1",
"protein_id": "ENSP00000618601.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2840,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948542.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2837C>A",
"hgvs_p": "p.Thr946Lys",
"transcript": "NM_001366650.1",
"protein_id": "NP_001353579.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2837,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366650.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2642C>A",
"hgvs_p": "p.Thr881Lys",
"transcript": "NM_001366651.1",
"protein_id": "NP_001353580.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366651.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2930C>A",
"hgvs_p": "p.Thr977Lys",
"transcript": "XM_011535019.4",
"protein_id": "XP_011533321.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2930,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535019.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2930C>A",
"hgvs_p": "p.Thr977Lys",
"transcript": "XM_047430227.1",
"protein_id": "XP_047286183.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2930,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430227.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2930C>A",
"hgvs_p": "p.Thr977Lys",
"transcript": "XM_047430228.1",
"protein_id": "XP_047286184.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2930,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430228.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2867C>A",
"hgvs_p": "p.Thr956Lys",
"transcript": "XM_047430229.1",
"protein_id": "XP_047286185.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1378,
"cds_start": 2867,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430229.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.2930C>A",
"hgvs_p": "p.Thr977Lys",
"transcript": "XM_017020500.3",
"protein_id": "XP_016875989.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2930,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020500.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"transcript": "XM_011535022.2",
"protein_id": "XP_011533324.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 575,
"cds_start": 458,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535022.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"transcript": "XM_024449335.2",
"protein_id": "XP_024305103.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 575,
"cds_start": 458,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449335.2"
}
],
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"dbsnp": "rs61999321",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07554885745048523,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.2233,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.524,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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_001033602.4",
"gene_symbol": "MTUS2",
"hgnc_id": 20595,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2840C>A",
"hgvs_p": "p.Thr947Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}