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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: 10-5766139-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5766139&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5766139,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001494.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402His",
"transcript": "NM_001494.4",
"protein_id": "NP_001485.2",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 445,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380191.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001494.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402His",
"transcript": "ENST00000380191.9",
"protein_id": "ENSP00000369538.4",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 445,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001494.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380191.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1070G>A",
"hgvs_p": "p.Arg357His",
"transcript": "ENST00000380181.8",
"protein_id": "ENSP00000369528.3",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 400,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380181.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His",
"transcript": "ENST00000865639.1",
"protein_id": "ENSP00000535698.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 475,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865639.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000925485.1",
"protein_id": "ENSP00000595544.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 473,
"cds_start": 1289,
"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": "ENST00000925485.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000925481.1",
"protein_id": "ENSP00000595540.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 447,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925481.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400His",
"transcript": "ENST00000925479.1",
"protein_id": "ENSP00000595538.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 443,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925479.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000972138.1",
"protein_id": "ENSP00000642197.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 442,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972138.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000925482.1",
"protein_id": "ENSP00000595541.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 428,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925482.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361His",
"transcript": "ENST00000972136.1",
"protein_id": "ENSP00000642195.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 404,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972136.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Arg358His",
"transcript": "ENST00000925480.1",
"protein_id": "ENSP00000595539.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 401,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925480.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1070G>A",
"hgvs_p": "p.Arg357His",
"transcript": "NM_001115156.2",
"protein_id": "NP_001108628.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 400,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001115156.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.1001G>A",
"hgvs_p": "p.Arg334His",
"transcript": "ENST00000925483.1",
"protein_id": "ENSP00000595542.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 377,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925483.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263His",
"transcript": "ENST00000972137.1",
"protein_id": "ENSP00000642196.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 306,
"cds_start": 788,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972137.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Ala182Thr",
"transcript": "ENST00000447751.5",
"protein_id": "ENSP00000387565.1",
"transcript_support_level": 3,
"aa_start": 182,
"aa_end": null,
"aa_length": 203,
"cds_start": 544,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447751.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144His",
"transcript": "ENST00000865640.1",
"protein_id": "ENSP00000535699.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 187,
"cds_start": 431,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865640.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "ENST00000925484.1",
"protein_id": "ENSP00000595543.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 143,
"cds_start": 299,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925484.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"hgvs_c": "n.1589G>A",
"hgvs_p": null,
"transcript": "ENST00000479928.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000479928.1"
}
],
"gene_symbol": "GDI2",
"gene_hgnc_id": 4227,
"dbsnp": "rs781568391",
"frequency_reference_population": 0.0000074382624,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752791,
"gnomad_genomes_af": 0.0000065767,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26303631067276,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.607,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1131,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 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_001494.4",
"gene_symbol": "GDI2",
"hgnc_id": 4227,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402His"
}
],
"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
}