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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: 11-87313443-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=87313443&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 87313443,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022918.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "NM_022918.4",
"protein_id": "NP_075069.3",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 458,
"cds_start": 955,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305494.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022918.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "ENST00000305494.6",
"protein_id": "ENSP00000306344.5",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 458,
"cds_start": 955,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022918.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305494.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Cys",
"transcript": "ENST00000340353.11",
"protein_id": "ENSP00000345513.6",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 436,
"cds_start": 889,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340353.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Cys",
"transcript": "ENST00000954970.1",
"protein_id": "ENSP00000625029.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 473,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954970.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Arg318Cys",
"transcript": "ENST00000934696.1",
"protein_id": "ENSP00000604755.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 457,
"cds_start": 952,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934696.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "ENST00000854944.1",
"protein_id": "ENSP00000525003.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 444,
"cds_start": 913,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854944.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Cys",
"transcript": "NM_001168724.2",
"protein_id": "NP_001162195.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 436,
"cds_start": 889,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168724.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Cys",
"transcript": "ENST00000854940.1",
"protein_id": "ENSP00000524999.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 427,
"cds_start": 862,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854940.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Arg270Cys",
"transcript": "ENST00000954972.1",
"protein_id": "ENSP00000625031.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 409,
"cds_start": 808,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954972.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Cys",
"transcript": "ENST00000954969.1",
"protein_id": "ENSP00000625028.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 408,
"cds_start": 805,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954969.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Arg266Cys",
"transcript": "ENST00000854945.1",
"protein_id": "ENSP00000525004.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 405,
"cds_start": 796,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854945.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000854943.1",
"protein_id": "ENSP00000525002.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 402,
"cds_start": 787,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854943.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "ENST00000854946.1",
"protein_id": "ENSP00000525005.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 395,
"cds_start": 766,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854946.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.Arg234Cys",
"transcript": "ENST00000854941.1",
"protein_id": "ENSP00000525000.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 373,
"cds_start": 700,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854941.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000934697.1",
"protein_id": "ENSP00000604756.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 351,
"cds_start": 634,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934697.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Arg190Cys",
"transcript": "ENST00000532959.5",
"protein_id": "ENSP00000436179.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 329,
"cds_start": 568,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532959.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"transcript": "XM_017018141.3",
"protein_id": "XP_016873630.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 330,
"cds_start": 571,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018141.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "XM_017018142.2",
"protein_id": "XP_016873631.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 319,
"cds_start": 538,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018142.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.936+3771C>T",
"hgvs_p": null,
"transcript": "ENST00000854942.1",
"protein_id": "ENSP00000525001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.870+3771C>T",
"hgvs_p": null,
"transcript": "ENST00000954971.1",
"protein_id": "ENSP00000625030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": null,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954971.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "n.1033C>T",
"hgvs_p": null,
"transcript": "NR_033149.2",
"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_033149.2"
}
],
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"dbsnp": "rs202089067",
"frequency_reference_population": 0.000009313322,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000959581,
"gnomad_genomes_af": 0.00000659517,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8806447386741638,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.582,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9537,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.28,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022918.4",
"gene_symbol": "TMEM135",
"hgnc_id": 26167,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys"
}
],
"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
}