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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: 2-178112752-CT-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178112752&ref=CT&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RBM45",
"hgnc_id": 24468,
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001365579.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152945.4",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000286070.10",
"protein_coding": true,
"protein_id": "NP_694453.2",
"strand": true,
"transcript": "NM_152945.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000286070.10",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152945.4",
"protein_coding": true,
"protein_id": "ENSP00000286070.5",
"strand": true,
"transcript": "ENST00000286070.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 322,
"cds_end": null,
"cds_length": 1854,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861657.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531716.1",
"strand": true,
"transcript": "ENST00000861657.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1854,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953979.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624038.1",
"strand": true,
"transcript": "ENST00000953979.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 330,
"cds_end": null,
"cds_length": 1854,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953981.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624040.1",
"strand": true,
"transcript": "ENST00000953981.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 557,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1674,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861659.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531718.1",
"strand": true,
"transcript": "ENST00000861659.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 476,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1431,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365579.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352508.1",
"strand": true,
"transcript": "NM_001365579.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365578.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352507.1",
"strand": true,
"transcript": "NM_001365578.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 206,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861654.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531713.1",
"strand": true,
"transcript": "ENST00000861654.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861655.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531714.1",
"strand": true,
"transcript": "ENST00000861655.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 331,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861656.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531715.1",
"strand": true,
"transcript": "ENST00000861656.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 340,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861658.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531717.1",
"strand": true,
"transcript": "ENST00000861658.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000914888.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584947.1",
"strand": true,
"transcript": "ENST00000914888.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1416,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953980.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624039.1",
"strand": true,
"transcript": "ENST00000953980.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1854,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003320.2",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858809.1",
"strand": true,
"transcript": "XM_017003320.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1854,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003321.2",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858810.1",
"strand": true,
"transcript": "XM_017003321.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1854,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443321.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299277.1",
"strand": true,
"transcript": "XM_047443321.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1854,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443322.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299278.1",
"strand": true,
"transcript": "XM_047443322.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6694,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443323.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299279.1",
"strand": true,
"transcript": "XM_047443323.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1425,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443324.1",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "c.206_207delCTinsGA",
"hgvs_p": "p.Ala69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299280.1",
"strand": true,
"transcript": "XM_047443324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000424000.6",
"gene_hgnc_id": 24468,
"gene_symbol": "RBM45",
"hgvs_c": "n.329_330delCTinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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}