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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: 3-134506843-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134506843&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134506843,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_025180.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "NM_001353108.3",
"protein_id": "NP_001340037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675561.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353108.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000675561.1",
"protein_id": "ENSP00000502085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353108.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675561.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000383229.8",
"protein_id": "ENSP00000372716.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383229.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000332047.10",
"protein_id": "ENSP00000328382.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"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": "ENST00000332047.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "NM_025180.5",
"protein_id": "NP_079456.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025180.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000513612.7",
"protein_id": "ENSP00000426129.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513612.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000606977.5",
"protein_id": "ENSP00000475903.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606977.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000683596.1",
"protein_id": "ENSP00000506896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.-40-266G>A",
"hgvs_p": null,
"transcript": "ENST00000683190.1",
"protein_id": "ENSP00000508034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683190.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "NM_001353109.1",
"protein_id": "NP_001340038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353109.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000682402.1",
"protein_id": "ENSP00000507548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
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"cds_length": 1974,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682402.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000682458.1",
"protein_id": "ENSP00000507263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
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"cds_length": 1974,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682458.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000891599.1",
"protein_id": "ENSP00000561658.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000891599.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
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"transcript": "NM_001042400.3",
"protein_id": "NP_001035859.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042400.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "NM_001353110.1",
"protein_id": "NP_001340039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353110.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "NM_001353111.2",
"protein_id": "NP_001340040.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353111.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "NM_001353112.2",
"protein_id": "NP_001340041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353112.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000683608.1",
"protein_id": "ENSP00000507704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000683608.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000684217.1",
"protein_id": "ENSP00000508291.1",
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"biotype": "protein_coding",
"feature": "ENST00000684217.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000684677.1",
"protein_id": "ENSP00000507217.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "ENST00000684677.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000891600.1",
"protein_id": "ENSP00000561659.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 541,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.45-266G>A",
"hgvs_p": null,
"transcript": "ENST00000891604.1",
"protein_id": "ENSP00000561663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "CEP63",
"hgnc_id": 25815,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.45-266G>A",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000472904.6",
"gene_symbol": "ENSG00000288700",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.406-266G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}