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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: 2-233354616-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233354616&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233354616,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152879.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_152879.3",
"protein_id": "NP_690618.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1214,
"cds_start": 98,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264057.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152879.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000264057.7",
"protein_id": "ENSP00000264057.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 1214,
"cds_start": 98,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152879.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264057.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963810.1",
"protein_id": "ENSP00000633869.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1293,
"cds_start": 98,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963810.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963809.1",
"protein_id": "ENSP00000633868.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1263,
"cds_start": 98,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963809.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000916439.1",
"protein_id": "ENSP00000586498.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1215,
"cds_start": 98,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916439.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963807.1",
"protein_id": "ENSP00000633866.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1202,
"cds_start": 98,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963807.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963811.1",
"protein_id": "ENSP00000633870.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1197,
"cds_start": 98,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963811.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000916440.1",
"protein_id": "ENSP00000586499.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1177,
"cds_start": 98,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916440.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000877255.1",
"protein_id": "ENSP00000547314.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1164,
"cds_start": 98,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877255.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963806.1",
"protein_id": "ENSP00000633865.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1154,
"cds_start": 98,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963806.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963808.1",
"protein_id": "ENSP00000633867.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1131,
"cds_start": 98,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963808.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Pro15Leu",
"transcript": "ENST00000442524.4",
"protein_id": "ENSP00000485047.1",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 162,
"cds_start": 44,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442524.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000427930.5",
"protein_id": "ENSP00000407938.1",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 156,
"cds_start": 98,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427930.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "XM_047446097.1",
"protein_id": "XP_047302053.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1187,
"cds_start": 98,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446097.1"
}
],
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"dbsnp": "rs750944437",
"frequency_reference_population": 0.000102744336,
"hom_count_reference_population": 0,
"allele_count_reference_population": 116,
"gnomad_exomes_af": 0.000105808,
"gnomad_genomes_af": 0.0000821344,
"gnomad_exomes_ac": 104,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16455957293510437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.322,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.03,
"phylop100way_prediction": "Benign",
"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_152879.3",
"gene_symbol": "DGKD",
"hgnc_id": 2851,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu"
}
],
"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
}