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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: 16-668215-CGC-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=668215&ref=CGC&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RHOT2",
"hgnc_id": 21169,
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001352275.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": 618,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 84,
"cds_end": null,
"cds_length": 1857,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138769.3",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000315082.9",
"protein_coding": true,
"protein_id": "NP_620124.1",
"strand": true,
"transcript": "NM_138769.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 84,
"cds_end": null,
"cds_length": 1857,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000315082.9",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138769.3",
"protein_coding": true,
"protein_id": "ENSP00000321971.4",
"strand": true,
"transcript": "ENST00000315082.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2493,
"cdna_start": 84,
"cds_end": null,
"cds_length": 1860,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352275.2",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339204.1",
"strand": true,
"transcript": "NM_001352275.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 116,
"cds_end": null,
"cds_length": 1860,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697194.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513180.1",
"strand": true,
"transcript": "ENST00000697194.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 92,
"cds_end": null,
"cds_length": 1854,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958324.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628383.1",
"strand": true,
"transcript": "ENST00000958324.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 106,
"cds_end": null,
"cds_length": 1851,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927722.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597781.1",
"strand": true,
"transcript": "ENST00000927722.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 106,
"cds_end": null,
"cds_length": 1836,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858880.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528939.1",
"strand": true,
"transcript": "ENST00000858880.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 607,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1824,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858881.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528940.1",
"strand": true,
"transcript": "ENST00000858881.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 116,
"cds_end": null,
"cds_length": 1809,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858879.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528938.1",
"strand": true,
"transcript": "ENST00000858879.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 601,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 84,
"cds_end": null,
"cds_length": 1806,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352276.2",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339205.1",
"strand": true,
"transcript": "NM_001352276.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 84,
"cds_end": null,
"cds_length": 1803,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352277.2",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339206.1",
"strand": true,
"transcript": "NM_001352277.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 116,
"cds_end": null,
"cds_length": 1779,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927721.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597780.1",
"strand": true,
"transcript": "ENST00000927721.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 585,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 84,
"cds_end": null,
"cds_length": 1758,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352278.2",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339207.1",
"strand": true,
"transcript": "NM_001352278.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 581,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 87,
"cds_end": null,
"cds_length": 1746,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958325.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628384.1",
"strand": true,
"transcript": "ENST00000958325.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 567,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 84,
"cds_end": null,
"cds_length": 1704,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352279.2",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339208.1",
"strand": true,
"transcript": "NM_001352279.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 567,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 116,
"cds_end": null,
"cds_length": 1704,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927720.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597779.1",
"strand": true,
"transcript": "ENST00000927720.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 213,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 736,
"cdna_start": 110,
"cds_end": null,
"cds_length": 642,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563134.5",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459564.1",
"strand": true,
"transcript": "ENST00000563134.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 207,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 625,
"cdna_start": 7,
"cds_end": null,
"cds_length": 625,
"cds_start": 7,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561929.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.7_9delCGCinsGGA",
"hgvs_p": "p.Arg3Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456855.1",
"strand": true,
"transcript": "ENST00000561929.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1604,
"cdna_start": 84,
"cds_end": null,
"cds_length": 1422,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434847.1",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.16_18delCGCinsGGA",
"hgvs_p": "p.Arg6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290803.1",
"strand": true,
"transcript": "XM_047434847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": null,
"cds_end": null,
"cds_length": 1539,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001352280.2",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.-289_-287delCGCinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339209.1",
"strand": true,
"transcript": "NM_001352280.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001352281.2",
"gene_hgnc_id": 21169,
"gene_symbol": "RHOT2",
"hgvs_c": "c.-289_-287delCGCinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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