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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: 5-10262612-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10262612&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CCT5",
"hgnc_id": 1618,
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Ala437Ala",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_012073.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "5",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Hereditary sensory and autonomic neuropathy with spastic paraplegia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6399999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1311,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_012073.5",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Ala437Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280326.9",
"protein_coding": true,
"protein_id": "NP_036205.1",
"strand": true,
"transcript": "NM_012073.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1311,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000280326.9",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Ala437Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012073.5",
"protein_coding": true,
"protein_id": "ENSP00000280326.4",
"strand": true,
"transcript": "ENST00000280326.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 565,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1311,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964556.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Ala437Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634615.1",
"strand": true,
"transcript": "ENST00000964556.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 549,
"aa_ref": "A",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1335,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964554.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1335G>A",
"hgvs_p": "p.Ala445Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634613.1",
"strand": true,
"transcript": "ENST00000964554.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1311,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000882453.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Ala437Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552512.1",
"strand": true,
"transcript": "ENST00000882453.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 538,
"aa_ref": "A",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000882451.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1302G>A",
"hgvs_p": "p.Ala434Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552510.1",
"strand": true,
"transcript": "ENST00000882451.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 535,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1293,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938096.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1293G>A",
"hgvs_p": "p.Ala431Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608155.1",
"strand": true,
"transcript": "ENST00000938096.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1290,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938101.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ala430Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608160.1",
"strand": true,
"transcript": "ENST00000938101.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 520,
"aa_ref": "A",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1248,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001306153.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Ala416Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293082.1",
"strand": true,
"transcript": "NM_001306153.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 520,
"aa_ref": "A",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1248,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000503026.5",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Ala416Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423318.1",
"strand": true,
"transcript": "ENST00000503026.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1242,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000882457.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1242G>A",
"hgvs_p": "p.Ala414Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552516.1",
"strand": true,
"transcript": "ENST00000882457.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 516,
"aa_ref": "A",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1236,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000882452.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Ala412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552511.1",
"strand": true,
"transcript": "ENST00000882452.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 512,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1224,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000882456.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1224G>A",
"hgvs_p": "p.Ala408Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552515.1",
"strand": true,
"transcript": "ENST00000882456.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1311,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964555.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Ala437Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634614.1",
"strand": true,
"transcript": "ENST00000964555.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 503,
"aa_ref": "A",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1197,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001306156.2",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1197G>A",
"hgvs_p": "p.Ala399Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293085.1",
"strand": true,
"transcript": "NM_001306156.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 503,
"aa_ref": "A",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1197,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000515676.5",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1197G>A",
"hgvs_p": "p.Ala399Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427297.1",
"strand": true,
"transcript": "ENST00000515676.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 501,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1191,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938095.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Ala397Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608154.1",
"strand": true,
"transcript": "ENST00000938095.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "A",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1146,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001306154.2",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1146G>A",
"hgvs_p": "p.Ala382Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293083.1",
"strand": true,
"transcript": "NM_001306154.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "A",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1146,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000515390.5",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1146G>A",
"hgvs_p": "p.Ala382Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426923.1",
"strand": true,
"transcript": "ENST00000515390.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 479,
"aa_ref": "A",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1125,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938097.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Ala375Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608156.1",
"strand": true,
"transcript": "ENST00000938097.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1032,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001306155.2",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Ala344Ala",
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