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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: 19-17606132-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17606132&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17606132,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001080421.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.5034C>T",
"hgvs_p": "p.Asp1678Asp",
"transcript": "NM_001080421.3",
"protein_id": "NP_001073890.2",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1703,
"cds_start": 5034,
"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": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.5034C>T",
"hgvs_p": "p.Asp1678Asp",
"transcript": "ENST00000519716.7",
"protein_id": "ENSP00000429562.2",
"transcript_support_level": 5,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1703,
"cds_start": 5034,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.5091C>T",
"hgvs_p": "p.Asp1697Asp",
"transcript": "ENST00000551649.5",
"protein_id": "ENSP00000447236.1",
"transcript_support_level": 5,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1722,
"cds_start": 5091,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.5022C>T",
"hgvs_p": "p.Asp1674Asp",
"transcript": "NM_001387021.1",
"protein_id": "NP_001373950.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1699,
"cds_start": 5022,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.5019C>T",
"hgvs_p": "p.Asp1673Asp",
"transcript": "NM_001387022.1",
"protein_id": "NP_001373951.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1698,
"cds_start": 5019,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.5016C>T",
"hgvs_p": "p.Asp1672Asp",
"transcript": "ENST00000552293.5",
"protein_id": "ENSP00000447572.1",
"transcript_support_level": 5,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1697,
"cds_start": 5016,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4953C>T",
"hgvs_p": "p.Asp1651Asp",
"transcript": "NM_001387023.1",
"protein_id": "NP_001373952.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1676,
"cds_start": 4953,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4953C>T",
"hgvs_p": "p.Asp1651Asp",
"transcript": "ENST00000550896.1",
"protein_id": "ENSP00000446831.1",
"transcript_support_level": 5,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1676,
"cds_start": 4953,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.5031C>T",
"hgvs_p": "p.Asp1677Asp",
"transcript": "XM_017026502.2",
"protein_id": "XP_016881991.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1702,
"cds_start": 5031,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.5004C>T",
"hgvs_p": "p.Asp1668Asp",
"transcript": "XM_011527810.3",
"protein_id": "XP_011526112.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1693,
"cds_start": 5004,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.4965C>T",
"hgvs_p": "p.Asp1655Asp",
"transcript": "XM_011527811.3",
"protein_id": "XP_011526113.1",
"transcript_support_level": null,
"aa_start": 1655,
"aa_end": null,
"aa_length": 1680,
"cds_start": 4965,
"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.*182C>T",
"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": "rs890020457",
"frequency_reference_population": 0.0000020817836,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000208178,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.431,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001080421.3",
"gene_symbol": "UNC13A",
"hgnc_id": 23150,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.5034C>T",
"hgvs_p": "p.Asp1678Asp"
}
],
"clinvar_disease": "UNC13A-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "UNC13A-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}