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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: 12-111936763-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111936763&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111936763,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001193531.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.517T>C",
"hgvs_p": "p.Cys173Arg",
"transcript": "NM_001193531.2",
"protein_id": "NP_001180460.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 337,
"cds_start": 517,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": "ENST00000552374.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.517T>C",
"hgvs_p": "p.Cys173Arg",
"transcript": "ENST00000552374.7",
"protein_id": "ENSP00000447731.1",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 337,
"cds_start": 517,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": "NM_001193531.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Cys138Arg",
"transcript": "ENST00000355445.7",
"protein_id": "ENSP00000347620.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 302,
"cds_start": 412,
"cds_end": null,
"cds_length": 909,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Cys81Arg",
"transcript": "ENST00000550831.7",
"protein_id": "ENSP00000450377.1",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 245,
"cds_start": 241,
"cds_end": null,
"cds_length": 738,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Cys301Arg",
"transcript": "ENST00000716768.1",
"protein_id": "ENSP00000520598.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 465,
"cds_start": 901,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Cys224Arg",
"transcript": "ENST00000718450.1",
"protein_id": "ENSP00000520830.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 388,
"cds_start": 670,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000550037.6",
"protein_id": "ENSP00000446516.2",
"transcript_support_level": 3,
"aa_start": 200,
"aa_end": null,
"aa_length": 364,
"cds_start": 598,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.538T>C",
"hgvs_p": "p.Cys180Arg",
"transcript": "ENST00000716727.1",
"protein_id": "ENSP00000520597.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 344,
"cds_start": 538,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Cys138Arg",
"transcript": "NM_001193453.2",
"protein_id": "NP_001180382.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 302,
"cds_start": 412,
"cds_end": null,
"cds_length": 909,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Cys81Arg",
"transcript": "NM_001294314.2",
"protein_id": "NP_001281243.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 245,
"cds_start": 241,
"cds_end": null,
"cds_length": 738,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Cys81Arg",
"transcript": "NM_138341.3",
"protein_id": "NP_612350.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 245,
"cds_start": 241,
"cds_end": null,
"cds_length": 738,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "n.*491T>C",
"hgvs_p": null,
"transcript": "ENST00000547878.6",
"protein_id": "ENSP00000448413.1",
"transcript_support_level": 2,
"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": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "n.688T>C",
"hgvs_p": null,
"transcript": "ENST00000548283.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "n.647T>C",
"hgvs_p": null,
"transcript": "ENST00000550800.7",
"protein_id": null,
"transcript_support_level": 3,
"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": 993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "n.637T>C",
"hgvs_p": null,
"transcript": "ENST00000552801.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "n.*491T>C",
"hgvs_p": null,
"transcript": "ENST00000547878.6",
"protein_id": "ENSP00000448413.1",
"transcript_support_level": 2,
"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": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "c.30+397T>C",
"hgvs_p": null,
"transcript": "ENST00000549537.6",
"protein_id": "ENSP00000449163.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"hgvs_c": "n.636+397T>C",
"hgvs_p": null,
"transcript": "NR_122119.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM116",
"gene_hgnc_id": 25084,
"dbsnp": "rs374854985",
"frequency_reference_population": 0.00002599638,
"hom_count_reference_population": 1,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000259964,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8454667925834656,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.567,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8793,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.68,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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_001193531.2",
"gene_symbol": "TMEM116",
"hgnc_id": 25084,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.517T>C",
"hgvs_p": "p.Cys173Arg"
}
],
"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
}