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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: 11-1753546-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1753546&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTSD",
"hgnc_id": 2529,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001909.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000250644",
"hgnc_id": null,
"hgvs_c": "c.1071+257G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000636615.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.7721,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 10",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9451395273208618,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001909.5",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000236671.7",
"protein_coding": true,
"protein_id": "NP_001900.1",
"strand": false,
"transcript": "NM_001909.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000236671.7",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001909.5",
"protein_coding": true,
"protein_id": "ENSP00000236671.2",
"strand": false,
"transcript": "ENST00000236671.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636615.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000250644",
"hgvs_c": "c.1071+257G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490014.1",
"strand": false,
"transcript": "ENST00000636615.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 467,
"aa_ref": "R",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962446.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632505.1",
"strand": false,
"transcript": "ENST00000962446.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000438213.6",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415036.2",
"strand": false,
"transcript": "ENST00000438213.6",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962447.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632506.1",
"strand": false,
"transcript": "ENST00000962447.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636843.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490897.1",
"strand": false,
"transcript": "ENST00000636843.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916370.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586429.1",
"strand": false,
"transcript": "ENST00000916370.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 409,
"aa_ref": "R",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000637915.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490471.1",
"strand": false,
"transcript": "ENST00000637915.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1227,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962444.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632503.1",
"strand": false,
"transcript": "ENST00000962444.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 406,
"aa_ref": "R",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1221,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000637815.2",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Arg393His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490344.1",
"strand": false,
"transcript": "ENST00000637815.2",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_length": 406,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1221,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
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"feature": "ENST00000962445.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Arg393His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632504.1",
"strand": false,
"transcript": "ENST00000962445.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 405,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636571.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490770.1",
"strand": false,
"transcript": "ENST00000636571.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000637387.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490598.1",
"strand": false,
"transcript": "ENST00000637387.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_length": 395,
"aa_ref": "R",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907824.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577883.1",
"strand": false,
"transcript": "ENST00000907824.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000367196.4",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356164.4",
"strand": false,
"transcript": "ENST00000367196.4",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000429746.2",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000402586.2",
"strand": false,
"transcript": "ENST00000429746.2",
"transcript_support_level": 3
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907825.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Arg358His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577884.1",
"strand": false,
"transcript": "ENST00000907825.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1007,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1006,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000427721.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000250644",
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415840.3",
"strand": false,
"transcript": "ENST00000427721.3",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 313,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 917,
"cds_end": null,
"cds_length": 942,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907826.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577885.1",
"strand": false,
"transcript": "ENST00000907826.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 168,
"aa_ref": "R",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 532,
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