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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: 5-10263166-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10263166&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10263166,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_012073.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Ala450Ala",
"transcript": "NM_012073.5",
"protein_id": "NP_036205.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 541,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280326.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012073.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Ala450Ala",
"transcript": "ENST00000280326.9",
"protein_id": "ENSP00000280326.4",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 541,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012073.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280326.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1422G>A",
"hgvs_p": "p.Ala474Ala",
"transcript": "ENST00000964556.1",
"protein_id": "ENSP00000634615.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 565,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964556.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1374G>A",
"hgvs_p": "p.Ala458Ala",
"transcript": "ENST00000964554.1",
"protein_id": "ENSP00000634613.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 549,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964554.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Ala450Ala",
"transcript": "ENST00000882453.1",
"protein_id": "ENSP00000552512.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 547,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882453.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1341G>A",
"hgvs_p": "p.Ala447Ala",
"transcript": "ENST00000882451.1",
"protein_id": "ENSP00000552510.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 538,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882451.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1332G>A",
"hgvs_p": "p.Ala444Ala",
"transcript": "ENST00000938096.1",
"protein_id": "ENSP00000608155.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 535,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938096.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1329G>A",
"hgvs_p": "p.Ala443Ala",
"transcript": "ENST00000938101.1",
"protein_id": "ENSP00000608160.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 534,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938101.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Ala429Ala",
"transcript": "NM_001306153.1",
"protein_id": "NP_001293082.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 520,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306153.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Ala429Ala",
"transcript": "ENST00000503026.5",
"protein_id": "ENSP00000423318.1",
"transcript_support_level": 2,
"aa_start": 429,
"aa_end": null,
"aa_length": 520,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503026.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ala427Ala",
"transcript": "ENST00000882457.1",
"protein_id": "ENSP00000552516.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 518,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882457.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Ala425Ala",
"transcript": "ENST00000882452.1",
"protein_id": "ENSP00000552511.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 516,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882452.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Ala421Ala",
"transcript": "ENST00000882456.1",
"protein_id": "ENSP00000552515.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 512,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882456.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Ala412Ala",
"transcript": "NM_001306156.2",
"protein_id": "NP_001293085.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 503,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306156.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Ala412Ala",
"transcript": "ENST00000515676.5",
"protein_id": "ENSP00000427297.1",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 503,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515676.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Ala410Ala",
"transcript": "ENST00000938095.1",
"protein_id": "ENSP00000608154.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 501,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938095.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1212G>A",
"hgvs_p": "p.Ala404Ala",
"transcript": "ENST00000938103.1",
"protein_id": "ENSP00000608162.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 495,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938103.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1185G>A",
"hgvs_p": "p.Ala395Ala",
"transcript": "NM_001306154.2",
"protein_id": "NP_001293083.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 486,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306154.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1185G>A",
"hgvs_p": "p.Ala395Ala",
"transcript": "ENST00000515390.5",
"protein_id": "ENSP00000426923.1",
"transcript_support_level": 2,
"aa_start": 395,
"aa_end": null,
"aa_length": 486,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515390.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1164G>A",
"hgvs_p": "p.Ala388Ala",
"transcript": "ENST00000938097.1",
"protein_id": "ENSP00000608156.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 479,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938097.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1071G>A",
"hgvs_p": "p.Ala357Ala",
"transcript": "NM_001306155.2",
"protein_id": "NP_001293084.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 448,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306155.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1071G>A",
"hgvs_p": "p.Ala357Ala",
"transcript": "ENST00000506600.1",
"protein_id": "ENSP00000423052.1",
"transcript_support_level": 2,
"aa_start": 357,
"aa_end": null,
"aa_length": 448,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506600.1"
},
{
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{
"score": -17,
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"BP7",
"BS2"
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"transcript": "NM_012073.5",
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],
"inheritance_mode": "AR,AD,Unknown",
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}
],
"clinvar_disease": "CCT5-related disorder,Hereditary sensory and autonomic neuropathy with spastic paraplegia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Hereditary sensory and autonomic neuropathy with spastic paraplegia|CCT5-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}