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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: 19-17606229-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17606229&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17606229,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001080421.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4937G>C",
"hgvs_p": "p.Arg1646Pro",
"transcript": "NM_001080421.3",
"protein_id": "NP_001073890.2",
"transcript_support_level": null,
"aa_start": 1646,
"aa_end": null,
"aa_length": 1703,
"cds_start": 4937,
"cds_end": null,
"cds_length": 5112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000519716.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080421.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4937G>C",
"hgvs_p": "p.Arg1646Pro",
"transcript": "ENST00000519716.7",
"protein_id": "ENSP00000429562.2",
"transcript_support_level": 5,
"aa_start": 1646,
"aa_end": null,
"aa_length": 1703,
"cds_start": 4937,
"cds_end": null,
"cds_length": 5112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080421.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519716.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4994G>C",
"hgvs_p": "p.Arg1665Pro",
"transcript": "ENST00000551649.5",
"protein_id": "ENSP00000447236.1",
"transcript_support_level": 5,
"aa_start": 1665,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4994,
"cds_end": null,
"cds_length": 5169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551649.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4925G>C",
"hgvs_p": "p.Arg1642Pro",
"transcript": "NM_001387021.1",
"protein_id": "NP_001373950.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387021.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4922G>C",
"hgvs_p": "p.Arg1641Pro",
"transcript": "NM_001387022.1",
"protein_id": "NP_001373951.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4922,
"cds_end": null,
"cds_length": 5097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387022.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4919G>C",
"hgvs_p": "p.Arg1640Pro",
"transcript": "ENST00000552293.5",
"protein_id": "ENSP00000447572.1",
"transcript_support_level": 5,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4919,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552293.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4856G>C",
"hgvs_p": "p.Arg1619Pro",
"transcript": "NM_001387023.1",
"protein_id": "NP_001373952.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1676,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387023.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4856G>C",
"hgvs_p": "p.Arg1619Pro",
"transcript": "ENST00000550896.1",
"protein_id": "ENSP00000446831.1",
"transcript_support_level": 5,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1676,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550896.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4934G>C",
"hgvs_p": "p.Arg1645Pro",
"transcript": "XM_017026502.2",
"protein_id": "XP_016881991.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1702,
"cds_start": 4934,
"cds_end": null,
"cds_length": 5109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026502.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4907G>C",
"hgvs_p": "p.Arg1636Pro",
"transcript": "XM_011527810.3",
"protein_id": "XP_011526112.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1693,
"cds_start": 4907,
"cds_end": null,
"cds_length": 5082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527810.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "c.4868G>C",
"hgvs_p": "p.Arg1623Pro",
"transcript": "XM_011527811.3",
"protein_id": "XP_011526113.1",
"transcript_support_level": null,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1680,
"cds_start": 4868,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527811.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"hgvs_c": "n.*85G>C",
"hgvs_p": null,
"transcript": "ENST00000523229.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000523229.1"
}
],
"gene_symbol": "UNC13A",
"gene_hgnc_id": 23150,
"dbsnp": "rs1417486551",
"frequency_reference_population": 7.14921e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14921e-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": 0.22559574246406555,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.4588,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.861,
"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_001080421.3",
"gene_symbol": "UNC13A",
"hgnc_id": 23150,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.4937G>C",
"hgvs_p": "p.Arg1646Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}