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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: 11-66482316-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66482316&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66482316,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000531863.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_130443.4",
"protein_id": "NP_569710.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 737,
"cds_start": 116,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "ENST00000531863.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000531863.6",
"protein_id": "ENSP00000432782.2",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 737,
"cds_start": 116,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "NM_130443.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000532677.5",
"protein_id": "ENSP00000435284.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 756,
"cds_start": 173,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.-191G>A",
"hgvs_p": null,
"transcript": "ENST00000532019.5",
"protein_id": "ENSP00000437101.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_005700.5",
"protein_id": "NP_005691.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 737,
"cds_start": 116,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000541961.5",
"protein_id": "ENSP00000440502.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 737,
"cds_start": 116,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_001256670.2",
"protein_id": "NP_001243599.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 707,
"cds_start": 116,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000530165.5",
"protein_id": "ENSP00000436941.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 707,
"cds_start": 116,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000531354.2",
"protein_id": "ENSP00000432618.2",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 200,
"cds_start": 116,
"cds_end": null,
"cds_length": 603,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000526515.5",
"protein_id": "ENSP00000431606.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 169,
"cds_start": 116,
"cds_end": null,
"cds_length": 511,
"cdna_start": 152,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000531314.1",
"protein_id": "ENSP00000436820.1",
"transcript_support_level": 4,
"aa_start": 39,
"aa_end": null,
"aa_length": 89,
"cds_start": 116,
"cds_end": null,
"cds_length": 270,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "n.156G>A",
"hgvs_p": null,
"transcript": "ENST00000531272.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "n.143G>A",
"hgvs_p": null,
"transcript": "ENST00000544603.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.-191G>A",
"hgvs_p": null,
"transcript": "ENST00000532019.5",
"protein_id": "ENSP00000437101.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"hgvs_c": "c.-37+1851G>A",
"hgvs_p": null,
"transcript": "ENST00000533725.5",
"protein_id": "ENSP00000434518.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": -4,
"cds_end": null,
"cds_length": 532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPP3",
"gene_hgnc_id": 3008,
"dbsnp": "rs557697442",
"frequency_reference_population": 0.0000130121525,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.00000889426,
"gnomad_genomes_af": 0.0000525417,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4053528308868408,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.36,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.532,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531863.6",
"gene_symbol": "DPP3",
"hgnc_id": 3008,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His"
}
],
"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
}