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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: 16-70663909-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70663909&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70663909,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000338779.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Arg671Gln",
"transcript": "NM_138383.3",
"protein_id": "NP_612392.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 747,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": "ENST00000338779.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Arg671Gln",
"transcript": "ENST00000338779.11",
"protein_id": "ENSP00000341171.6",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 747,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": "NM_138383.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.2144G>A",
"hgvs_p": "p.Arg715Gln",
"transcript": "XM_011523450.3",
"protein_id": "XP_011521752.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 791,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Arg690Gln",
"transcript": "XM_011523453.4",
"protein_id": "XP_011521755.3",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 766,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.2060G>A",
"hgvs_p": "p.Arg687Gln",
"transcript": "XM_011523454.4",
"protein_id": "XP_011521756.3",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 763,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.2003G>A",
"hgvs_p": "p.Arg668Gln",
"transcript": "XM_047434890.1",
"protein_id": "XP_047290846.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 744,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Arg658Gln",
"transcript": "XM_017023879.3",
"protein_id": "XP_016879368.2",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 734,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Arg655Gln",
"transcript": "XM_047434891.1",
"protein_id": "XP_047290847.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 731,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.1937G>A",
"hgvs_p": "p.Arg646Gln",
"transcript": "XM_017023880.3",
"protein_id": "XP_016879369.2",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 722,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.1928G>A",
"hgvs_p": "p.Arg643Gln",
"transcript": "XM_047434892.1",
"protein_id": "XP_047290848.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 719,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.1916G>A",
"hgvs_p": "p.Arg639Gln",
"transcript": "XM_017023881.3",
"protein_id": "XP_016879370.2",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 715,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Arg636Gln",
"transcript": "XM_005256236.6",
"protein_id": "XP_005256293.3",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 712,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "XM_011523458.3",
"protein_id": "XP_011521760.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 618,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Arg491Gln",
"transcript": "XM_047434893.1",
"protein_id": "XP_047290849.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 567,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279569",
"gene_hgnc_id": null,
"hgvs_c": "n.2243C>T",
"hgvs_p": null,
"transcript": "ENST00000623414.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"dbsnp": "rs374985478",
"frequency_reference_population": 0.000059378974,
"hom_count_reference_population": 0,
"allele_count_reference_population": 92,
"gnomad_exomes_af": 0.0000586962,
"gnomad_genomes_af": 0.0000656401,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13228505849838257,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.4797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.119,
"phylop100way_prediction": "Benign",
"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": "PM5,PP2,BP4_Moderate,BS2_Supporting",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 3,
"pathogenic_score": 3,
"criteria": [
"PM5",
"PP2",
"BP4_Moderate",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000338779.11",
"gene_symbol": "MTSS2",
"hgnc_id": 25094,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Arg671Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000623414.1",
"gene_symbol": "ENSG00000279569",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2243C>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
}