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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: 17-75843162-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75843162&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75843162,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000207549.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "NM_199242.3",
"protein_id": "NP_954712.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1090,
"cds_start": 258,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": "ENST00000207549.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000207549.9",
"protein_id": "ENSP00000207549.3",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 1090,
"cds_start": 258,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": "NM_199242.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000412096.6",
"protein_id": "ENSP00000388093.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 1142,
"cds_start": 258,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 3648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Gln80Gln",
"transcript": "ENST00000592386.6",
"protein_id": "ENSP00000466826.2",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 310,
"cds_start": 240,
"cds_end": null,
"cds_length": 933,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "ENST00000590762.5",
"protein_id": "ENSP00000467653.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 266,
"cds_start": 201,
"cds_end": null,
"cds_length": 801,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000699513.1",
"protein_id": "ENSP00000514408.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 189,
"cds_start": 258,
"cds_end": null,
"cds_length": 570,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln",
"transcript": "ENST00000586108.1",
"protein_id": "ENSP00000464749.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 168,
"cds_start": 258,
"cds_end": null,
"cds_length": 509,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gln51Gln",
"transcript": "ENST00000699512.1",
"protein_id": "ENSP00000514407.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 135,
"cds_start": 153,
"cds_end": null,
"cds_length": 410,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.201G>A",
"hgvs_p": null,
"transcript": "ENST00000585574.6",
"protein_id": "ENSP00000514389.1",
"transcript_support_level": 3,
"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": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.201G>A",
"hgvs_p": null,
"transcript": "ENST00000587504.6",
"protein_id": "ENSP00000514388.1",
"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": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.1045G>A",
"hgvs_p": null,
"transcript": "ENST00000588774.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.339G>A",
"hgvs_p": null,
"transcript": "ENST00000591563.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.117+1059G>A",
"hgvs_p": null,
"transcript": "ENST00000586147.1",
"protein_id": "ENSP00000466543.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": -4,
"cds_end": null,
"cds_length": 566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"dbsnp": "rs757537508",
"frequency_reference_population": 0.0000024815097,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205506,
"gnomad_genomes_af": 0.00000657419,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.034,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000207549.9",
"gene_symbol": "UNC13D",
"hgnc_id": 23147,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Gln86Gln"
}
],
"clinvar_disease": "Familial hemophagocytic lymphohistiocytosis 3",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Familial hemophagocytic lymphohistiocytosis 3",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}