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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: 11-1753521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1753521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CTSD",
"hgnc_id": 2529,
"hgvs_c": "c.1221C>T",
"hgvs_p": "p.Ala407Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001909.5",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000250644",
"hgnc_id": null,
"hgvs_c": "c.1071+282C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -4,
"transcript": "ENST00000636615.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Neuronal ceroid lipofuscinosis",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 412,
"aa_ref": "A",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1221,
"consequences": [
"synonymous_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.1221C>T",
"hgvs_p": "p.Ala407Ala",
"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": "A",
"aa_end": null,
"aa_length": 412,
"aa_ref": "A",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1221,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000236671.7",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1221C>T",
"hgvs_p": "p.Ala407Ala",
"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+282C>T",
"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": "A",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1386,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962446.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1386C>T",
"hgvs_p": "p.Ala462Ala",
"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": "A",
"aa_end": null,
"aa_length": 451,
"aa_ref": "A",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000438213.6",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ala446Ala",
"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": "A",
"aa_end": null,
"aa_length": 427,
"aa_ref": "A",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1266,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962447.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Ala422Ala",
"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": "A",
"aa_end": null,
"aa_length": 410,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1215,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636843.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1215C>T",
"hgvs_p": "p.Ala405Ala",
"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": "A",
"aa_end": null,
"aa_length": 410,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1215,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916370.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1215C>T",
"hgvs_p": "p.Ala405Ala",
"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": "A",
"aa_end": null,
"aa_length": 409,
"aa_ref": "A",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1212,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000637915.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Ala404Ala",
"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": "A",
"aa_end": null,
"aa_length": 408,
"aa_ref": "A",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1227,
"cds_start": 1209,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962444.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1209C>T",
"hgvs_p": "p.Ala403Ala",
"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": "A",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1221,
"cds_start": 1203,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000637815.2",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Ala401Ala",
"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": "A",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1221,
"cds_start": 1203,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962445.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Ala401Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632504.1",
"strand": false,
"transcript": "ENST00000962445.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 405,
"aa_ref": "A",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1200,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636571.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1200C>T",
"hgvs_p": "p.Ala400Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490770.1",
"strand": false,
"transcript": "ENST00000636571.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 405,
"aa_ref": "A",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1200,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000637387.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1200C>T",
"hgvs_p": "p.Ala400Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490598.1",
"strand": false,
"transcript": "ENST00000637387.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1170,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907824.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1170C>T",
"hgvs_p": "p.Ala390Ala",
"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": "A",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1116,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000367196.4",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1116C>T",
"hgvs_p": "p.Ala372Ala",
"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": "A",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1116,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000429746.2",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1116C>T",
"hgvs_p": "p.Ala372Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402586.2",
"strand": false,
"transcript": "ENST00000429746.2",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 371,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1098,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907825.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.1098C>T",
"hgvs_p": "p.Ala366Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577884.1",
"strand": false,
"transcript": "ENST00000907825.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 313,
"aa_ref": "A",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 942,
"cds_end": null,
"cds_length": 942,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907826.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.924C>T",
"hgvs_p": "p.Ala308Ala",
"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": "A",
"aa_end": null,
"aa_length": 168,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 557,
"cds_end": null,
"cds_length": 507,
"cds_start": 489,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000907823.1",
"gene_hgnc_id": 2529,
"gene_symbol": "CTSD",
"hgvs_c": "c.489C>T",
"hgvs_p": "p.Ala163Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577882.1",
"strand": false,
"transcript": "ENST00000907823.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 582,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
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