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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: 12-118068522-TTCCTCC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=118068522&ref=TTCCTCC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 118068522,
"ref": "TTCCTCC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_019086.6",
"consequences": [
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1416_1421delGGAGGA",
"hgvs_p": "p.Glu473_Glu474del",
"transcript": "NM_019086.6",
"protein_id": "NP_061959.2",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 540,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359236.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019086.6"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1416_1421delGGAGGA",
"hgvs_p": "p.Glu473_Glu474del",
"transcript": "ENST00000359236.10",
"protein_id": "ENSP00000352172.5",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 540,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019086.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359236.10"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1413_1418delGGAGGA",
"hgvs_p": "p.Glu472_Glu473del",
"transcript": "ENST00000965107.1",
"protein_id": "ENSP00000635166.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 539,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965107.1"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1155_1160delGGAGGA",
"hgvs_p": "p.Glu386_Glu387del",
"transcript": "ENST00000965105.1",
"protein_id": "ENSP00000635164.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 453,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965105.1"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.852_857delGGAGGA",
"hgvs_p": "p.Glu285_Glu286del",
"transcript": "ENST00000965106.1",
"protein_id": "ENSP00000635165.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 352,
"cds_start": 852,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965106.1"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1413_1418delGGAGGA",
"hgvs_p": "p.Glu472_Glu473del",
"transcript": "XM_011538502.2",
"protein_id": "XP_011536804.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 539,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538502.2"
},
{
"aa_ref": "RRK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1400_1405delGGAGGA",
"hgvs_p": "p.Arg467_Arg468del",
"transcript": "XM_047429032.1",
"protein_id": "XP_047284988.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 472,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429032.1"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1113_1118delGGAGGA",
"hgvs_p": "p.Glu372_Glu373del",
"transcript": "XM_006719467.3",
"protein_id": "XP_006719530.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 439,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719467.3"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.900_905delGGAGGA",
"hgvs_p": "p.Glu301_Glu302del",
"transcript": "XM_005253908.5",
"protein_id": "XP_005253965.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 368,
"cds_start": 900,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253908.5"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.717_722delGGAGGA",
"hgvs_p": "p.Glu240_Glu241del",
"transcript": "XM_006719468.2",
"protein_id": "XP_006719531.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 307,
"cds_start": 717,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719468.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903030",
"gene_hgnc_id": null,
"hgvs_c": "n.221+6863_221+6868delCTCCTC",
"hgvs_p": null,
"transcript": "XR_007063479.1",
"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": "XR_007063479.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "n.*6_*11delGGAGGA",
"hgvs_p": null,
"transcript": "XR_002957342.2",
"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": "XR_002957342.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "n.*6_*11delGGAGGA",
"hgvs_p": null,
"transcript": "XR_002957343.2",
"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": "XR_002957343.2"
}
],
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"dbsnp": "rs67582641",
"frequency_reference_population": 0.20614807,
"hom_count_reference_population": 35263,
"allele_count_reference_population": 330269,
"gnomad_exomes_af": 0.202005,
"gnomad_genomes_af": 0.246051,
"gnomad_exomes_ac": 293192,
"gnomad_genomes_ac": 37077,
"gnomad_exomes_homalt": 30182,
"gnomad_genomes_homalt": 5081,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.612,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_019086.6",
"gene_symbol": "VSIG10",
"hgnc_id": 26078,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1416_1421delGGAGGA",
"hgvs_p": "p.Glu473_Glu474del"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007063479.1",
"gene_symbol": "LOC124903030",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.221+6863_221+6868delCTCCTC",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}