← Back to variant description
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-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27508073&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27508073,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001486.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu446Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264717.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001486.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu446Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001486.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264717.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu444Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867122.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu423Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867123.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu423Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867126.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu421Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867129.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu446Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867125.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu400Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867128.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu395Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867121.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu371Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867124.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu358Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867127.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu146Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411584.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu256Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003796.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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>C",
"hgvs_p": "p.Leu256Pro",
"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": null,
"cdna_end": null,
"cdna_length": null,
"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>C",
"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": null,
"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>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738699.1"
}
],
"gene_symbol": "GCKR",
"gene_hgnc_id": 4196,
"dbsnp": "rs1260326",
"frequency_reference_population": 0.61730987,
"hom_count_reference_population": 312465,
"allele_count_reference_population": 994022,
"gnomad_exomes_af": 0.61178,
"gnomad_genomes_af": 0.670353,
"gnomad_exomes_ac": 892119,
"gnomad_genomes_ac": 101903,
"gnomad_exomes_homalt": 277034,
"gnomad_genomes_homalt": 35431,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000001074255010280467,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0346,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.075,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.00000436768466520192,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001486.4",
"gene_symbol": "GCKR",
"hgnc_id": 4196,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1337T>C",
"hgvs_p": "p.Leu446Pro"
}
],
"clinvar_disease": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}