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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: 16-70664131-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70664131&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70664131,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_138383.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"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.1790C>G",
"hgvs_p": "p.Thr597Arg",
"transcript": "NM_138383.3",
"protein_id": "NP_612392.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 747,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338779.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138383.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1790C>G",
"hgvs_p": "p.Thr597Arg",
"transcript": "ENST00000338779.11",
"protein_id": "ENSP00000341171.6",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 747,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138383.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338779.11"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1922C>G",
"hgvs_p": "p.Thr641Arg",
"transcript": "XM_011523450.3",
"protein_id": "XP_011521752.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 791,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523450.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1847C>G",
"hgvs_p": "p.Thr616Arg",
"transcript": "XM_011523453.4",
"protein_id": "XP_011521755.3",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 766,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523453.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1838C>G",
"hgvs_p": "p.Thr613Arg",
"transcript": "XM_011523454.4",
"protein_id": "XP_011521756.3",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 763,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523454.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "XM_047434890.1",
"protein_id": "XP_047290846.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 744,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434890.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1751C>G",
"hgvs_p": "p.Thr584Arg",
"transcript": "XM_017023879.3",
"protein_id": "XP_016879368.2",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 734,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023879.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1742C>G",
"hgvs_p": "p.Thr581Arg",
"transcript": "XM_047434891.1",
"protein_id": "XP_047290847.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 731,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434891.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1715C>G",
"hgvs_p": "p.Thr572Arg",
"transcript": "XM_017023880.3",
"protein_id": "XP_016879369.2",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 722,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023880.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1706C>G",
"hgvs_p": "p.Thr569Arg",
"transcript": "XM_047434892.1",
"protein_id": "XP_047290848.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 719,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434892.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1694C>G",
"hgvs_p": "p.Thr565Arg",
"transcript": "XM_017023881.3",
"protein_id": "XP_016879370.2",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 715,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023881.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1685C>G",
"hgvs_p": "p.Thr562Arg",
"transcript": "XM_005256236.6",
"protein_id": "XP_005256293.3",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 712,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256236.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1403C>G",
"hgvs_p": "p.Thr468Arg",
"transcript": "XM_011523458.3",
"protein_id": "XP_011521760.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 618,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523458.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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.1250C>G",
"hgvs_p": "p.Thr417Arg",
"transcript": "XM_047434893.1",
"protein_id": "XP_047290849.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 567,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434893.1"
},
{
"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.2465G>C",
"hgvs_p": null,
"transcript": "ENST00000623414.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "TEC",
"feature": "ENST00000623414.1"
}
],
"gene_symbol": "MTSS2",
"gene_hgnc_id": 25094,
"dbsnp": "rs531163149",
"frequency_reference_population": 0.0000020572152,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205722,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6289079785346985,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.352,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4781,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.886,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP2",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM5",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138383.3",
"gene_symbol": "MTSS2",
"hgnc_id": 25094,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1790C>G",
"hgvs_p": "p.Thr597Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000623414.1",
"gene_symbol": "ENSG00000279569",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2465G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}