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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: 4-961139-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=961139&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 961139,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001347.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2637C>G",
"hgvs_p": "p.Val879Val",
"transcript": "NM_001347.4",
"protein_id": "NP_001338.2",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 942,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": "ENST00000273814.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2637C>G",
"hgvs_p": "p.Val879Val",
"transcript": "ENST00000273814.8",
"protein_id": "ENSP00000273814.3",
"transcript_support_level": 1,
"aa_start": 879,
"aa_end": null,
"aa_length": 942,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": "NM_001347.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273814.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2724C>G",
"hgvs_p": "p.Val908Val",
"transcript": "ENST00000932945.1",
"protein_id": "ENSP00000603004.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 971,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 4754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932945.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2679C>G",
"hgvs_p": "p.Val893Val",
"transcript": "ENST00000970135.1",
"protein_id": "ENSP00000640194.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 956,
"cds_start": 2679,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970135.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2637C>G",
"hgvs_p": "p.Val879Val",
"transcript": "ENST00000932946.1",
"protein_id": "ENSP00000603005.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 942,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2741,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932946.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2631C>G",
"hgvs_p": "p.Val877Val",
"transcript": "ENST00000932947.1",
"protein_id": "ENSP00000603006.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 940,
"cds_start": 2631,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932947.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2436C>G",
"hgvs_p": "p.Val812Val",
"transcript": "ENST00000509465.5",
"protein_id": "ENSP00000425862.1",
"transcript_support_level": 5,
"aa_start": 812,
"aa_end": null,
"aa_length": 875,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509465.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.282C>G",
"hgvs_p": "p.Val94Val",
"transcript": "ENST00000515182.1",
"protein_id": "ENSP00000421756.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 157,
"cds_start": 282,
"cds_end": null,
"cds_length": 474,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515182.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2724C>G",
"hgvs_p": "p.Val908Val",
"transcript": "XM_047449687.1",
"protein_id": "XP_047305643.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 971,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449687.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"hgvs_c": "c.2637C>G",
"hgvs_p": "p.Val879Val",
"transcript": "XM_011513411.2",
"protein_id": "XP_011511713.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 942,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513411.2"
}
],
"gene_symbol": "DGKQ",
"gene_hgnc_id": 2856,
"dbsnp": "rs760056995",
"frequency_reference_population": 6.8729844e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87298e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.209,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001347.4",
"gene_symbol": "DGKQ",
"hgnc_id": 2856,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2637C>G",
"hgvs_p": "p.Val879Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}