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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: 22-41230221-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41230221&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "L3MBTL2",
"hgnc_id": 18594,
"hgvs_c": "c.2088C>A",
"hgvs_p": "p.Val696Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_031488.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CHADL",
"hgnc_id": 25165,
"hgvs_c": "c.2263-491G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_138481.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 705,
"aa_ref": "V",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 2118,
"cds_start": 2088,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_031488.5",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.2088C>A",
"hgvs_p": "p.Val696Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216237.10",
"protein_coding": true,
"protein_id": "NP_113676.2",
"strand": true,
"transcript": "NM_031488.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 705,
"aa_ref": "V",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 2118,
"cds_start": 2088,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000216237.10",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.2088C>A",
"hgvs_p": "p.Val696Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031488.5",
"protein_coding": true,
"protein_id": "ENSP00000216237.5",
"strand": true,
"transcript": "ENST00000216237.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 762,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": null,
"cds_end": null,
"cds_length": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138481.2",
"gene_hgnc_id": 25165,
"gene_symbol": "CHADL",
"hgvs_c": "c.2263-491G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216241.14",
"protein_coding": true,
"protein_id": "NP_612490.1",
"strand": false,
"transcript": "NM_138481.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 762,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": null,
"cds_end": null,
"cds_length": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000216241.14",
"gene_hgnc_id": 25165,
"gene_symbol": "CHADL",
"hgvs_c": "c.2263-491G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138481.2",
"protein_coding": true,
"protein_id": "ENSP00000216241.9",
"strand": false,
"transcript": "ENST00000216241.14",
"transcript_support_level": 1
},
{
"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": 3055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000466589.5",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "n.2622C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000466589.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 739,
"aa_ref": "V",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 2220,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000892682.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.2190C>A",
"hgvs_p": "p.Val730Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562741.1",
"strand": true,
"transcript": "ENST00000892682.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 713,
"aa_ref": "V",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 2142,
"cds_start": 2112,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000969172.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.2112C>A",
"hgvs_p": "p.Val704Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639231.1",
"strand": true,
"transcript": "ENST00000969172.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 709,
"aa_ref": "V",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 2130,
"cds_start": 2100,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922934.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.2100C>A",
"hgvs_p": "p.Val700Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592993.1",
"strand": true,
"transcript": "ENST00000922934.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 704,
"aa_ref": "V",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2115,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000969169.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.2085C>A",
"hgvs_p": "p.Val695Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639228.1",
"strand": true,
"transcript": "ENST00000969169.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 692,
"aa_ref": "V",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 2079,
"cds_start": 2049,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000969170.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.2049C>A",
"hgvs_p": "p.Val683Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639229.1",
"strand": true,
"transcript": "ENST00000969170.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "V",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1983,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000969168.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1983C>A",
"hgvs_p": "p.Val661Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639227.1",
"strand": true,
"transcript": "ENST00000969168.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 666,
"aa_ref": "V",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1971,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000892680.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1971C>A",
"hgvs_p": "p.Val657Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562739.1",
"strand": true,
"transcript": "ENST00000892680.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 645,
"aa_ref": "V",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1908,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922932.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1908C>A",
"hgvs_p": "p.Val636Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592991.1",
"strand": true,
"transcript": "ENST00000922932.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 637,
"aa_ref": "V",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 1935,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1884,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000922933.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1884C>A",
"hgvs_p": "p.Val628Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592992.1",
"strand": true,
"transcript": "ENST00000922933.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 621,
"aa_ref": "V",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2942,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1836,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000892681.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1836C>A",
"hgvs_p": "p.Val612Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562740.1",
"strand": true,
"transcript": "ENST00000892681.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1719,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000969171.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1719C>A",
"hgvs_p": "p.Val573Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639230.1",
"strand": true,
"transcript": "ENST00000969171.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 621,
"aa_ref": "V",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 1887,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1836,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017028976.2",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1836C>A",
"hgvs_p": "p.Val612Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884465.1",
"strand": true,
"transcript": "XM_017028976.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 595,
"aa_ref": "V",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017028977.2",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1758C>A",
"hgvs_p": "p.Val586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884466.1",
"strand": true,
"transcript": "XM_017028977.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1458,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047441537.1",
"gene_hgnc_id": 18594,
"gene_symbol": "L3MBTL2",
"hgvs_c": "c.1458C>A",
"hgvs_p": "p.Val486Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297493.1",
"strand": true,
"transcript": "XM_047441537.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 755,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": null,
"cds_end": null,
"cds_length": 2268,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892871.1",
"gene_hgnc_id": 25165,
"gene_symbol": "CHADL",
"hgvs_c": "c.2242-491G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562930.1",
"strand": false,
"transcript": "ENST00000892871.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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