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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: 2-27508073-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27508073&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27508073,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001486.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1337T>G",
"hgvs_p": "p.Leu446Arg",
"transcript": "NM_001486.4",
"protein_id": "NP_001477.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 625,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": "ENST00000264717.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001486.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1337T>G",
"hgvs_p": "p.Leu446Arg",
"transcript": "ENST00000264717.7",
"protein_id": "ENSP00000264717.2",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 625,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": "NM_001486.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264717.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1331T>G",
"hgvs_p": "p.Leu444Arg",
"transcript": "ENST00000867122.1",
"protein_id": "ENSP00000537181.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 623,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867122.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1268T>G",
"hgvs_p": "p.Leu423Arg",
"transcript": "ENST00000867123.1",
"protein_id": "ENSP00000537182.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 602,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867123.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1268T>G",
"hgvs_p": "p.Leu423Arg",
"transcript": "ENST00000867126.1",
"protein_id": "ENSP00000537185.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 602,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867126.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1262T>G",
"hgvs_p": "p.Leu421Arg",
"transcript": "ENST00000867129.1",
"protein_id": "ENSP00000537188.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 600,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867129.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1337T>G",
"hgvs_p": "p.Leu446Arg",
"transcript": "ENST00000867125.1",
"protein_id": "ENSP00000537184.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 580,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867125.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1199T>G",
"hgvs_p": "p.Leu400Arg",
"transcript": "ENST00000867128.1",
"protein_id": "ENSP00000537187.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 579,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867128.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1184T>G",
"hgvs_p": "p.Leu395Arg",
"transcript": "ENST00000867121.1",
"protein_id": "ENSP00000537180.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 574,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867121.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1112T>G",
"hgvs_p": "p.Leu371Arg",
"transcript": "ENST00000867124.1",
"protein_id": "ENSP00000537183.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 550,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867124.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.1073T>G",
"hgvs_p": "p.Leu358Arg",
"transcript": "ENST00000867127.1",
"protein_id": "ENSP00000537186.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 537,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867127.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.437T>G",
"hgvs_p": "p.Leu146Arg",
"transcript": "ENST00000411584.1",
"protein_id": "ENSP00000416917.1",
"transcript_support_level": 3,
"aa_start": 146,
"aa_end": null,
"aa_length": 188,
"cds_start": 437,
"cds_end": null,
"cds_length": 567,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411584.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.767T>G",
"hgvs_p": "p.Leu256Arg",
"transcript": "XM_017003796.2",
"protein_id": "XP_016859285.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 435,
"cds_start": 767,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003796.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "c.767T>G",
"hgvs_p": "p.Leu256Arg",
"transcript": "XM_017003797.2",
"protein_id": "XP_016859286.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 435,
"cds_start": 767,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003797.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "n.534T>G",
"hgvs_p": null,
"transcript": "ENST00000478147.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478147.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"hgvs_c": "n.*5T>G",
"hgvs_p": null,
"transcript": "XR_001738699.1",
"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": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738699.1"
}
],
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"dbsnp": "rs1260326",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16724753379821777,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.006000000052154064,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.0734,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.075,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000407699818835703,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001486.4",
"gene_symbol": "GCKR",
"hgnc_id": 4196,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1337T>G",
"hgvs_p": "p.Leu446Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}