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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: 13-29480170-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=29480170&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 29480170,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001033602.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Glu1069Lys",
"transcript": "NM_001033602.4",
"protein_id": "NP_001028774.3",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3205,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Glu1069Lys",
"transcript": "ENST00000612955.6",
"protein_id": "ENSP00000483729.2",
"transcript_support_level": 5,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3205,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000380808.6",
"protein_id": "ENSP00000370186.2",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 348,
"cds_start": 142,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380808.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.-129G>A",
"hgvs_p": null,
"transcript": "ENST00000542829.1",
"protein_id": "ENSP00000445403.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542829.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Glu1069Lys",
"transcript": "NM_001384605.1",
"protein_id": "NP_001371534.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3205,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Glu1069Lys",
"transcript": "NM_001384606.1",
"protein_id": "NP_001371535.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3205,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Glu1069Lys",
"transcript": "ENST00000948542.1",
"protein_id": "ENSP00000618601.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3205,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3202G>A",
"hgvs_p": "p.Glu1068Lys",
"transcript": "NM_001366650.1",
"protein_id": "NP_001353579.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3202,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3007G>A",
"hgvs_p": "p.Glu1003Lys",
"transcript": "NM_001366651.1",
"protein_id": "NP_001353580.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3007,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "NM_015233.6",
"protein_id": "NP_056048.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 348,
"cds_start": 142,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015233.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3295G>A",
"hgvs_p": "p.Glu1099Lys",
"transcript": "XM_011535019.4",
"protein_id": "XP_011533321.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3295,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3295G>A",
"hgvs_p": "p.Glu1099Lys",
"transcript": "XM_047430227.1",
"protein_id": "XP_047286183.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3295,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3295G>A",
"hgvs_p": "p.Glu1099Lys",
"transcript": "XM_047430228.1",
"protein_id": "XP_047286184.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3295,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.3232G>A",
"hgvs_p": "p.Glu1078Lys",
"transcript": "XM_047430229.1",
"protein_id": "XP_047286185.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3232,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Glu275Lys",
"transcript": "XM_011535022.2",
"protein_id": "XP_011533324.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 575,
"cds_start": 823,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Glu275Lys",
"transcript": "XM_024449335.2",
"protein_id": "XP_024305103.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 575,
"cds_start": 823,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTUS2-AS1",
"gene_hgnc_id": 40924,
"hgvs_c": "n.1568-3231C>T",
"hgvs_p": null,
"transcript": "ENST00000323380.7",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000323380.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTUS2-AS1",
"gene_hgnc_id": 40924,
"hgvs_c": "n.720+1944C>T",
"hgvs_p": null,
"transcript": "ENST00000587588.3",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000587588.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTUS2-AS1",
"gene_hgnc_id": 40924,
"hgvs_c": "n.690-3231C>T",
"hgvs_p": null,
"transcript": "NR_046378.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_046378.1"
}
],
"gene_symbol": "MTUS2",
"gene_hgnc_id": 20595,
"dbsnp": "rs144118917",
"frequency_reference_population": 0.00014987431,
"hom_count_reference_population": 0,
"allele_count_reference_population": 233,
"gnomad_exomes_af": 0.000158298,
"gnomad_genomes_af": 0.0000722667,
"gnomad_exomes_ac": 222,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19597530364990234,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.174,
"revel_prediction": "Benign",
"alphamissense_score": 0.2616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.524,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001033602.4",
"gene_symbol": "MTUS2",
"hgnc_id": 20595,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Glu1069Lys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_046378.1",
"gene_symbol": "MTUS2-AS1",
"hgnc_id": 40924,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.690-3231C>T",
"hgvs_p": null
}
],
"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
}