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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: 7-122380329-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122380329&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 122380329,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000449022.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3313-887T>G",
"hgvs_p": null,
"transcript": "NM_017954.11",
"protein_id": "NP_060424.9",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": -4,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5768,
"mane_select": "ENST00000449022.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3313-887T>G",
"hgvs_p": null,
"transcript": "ENST00000449022.7",
"protein_id": "ENSP00000398481.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": -4,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5768,
"mane_select": "NM_017954.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3190-887T>G",
"hgvs_p": null,
"transcript": "ENST00000412584.6",
"protein_id": "ENSP00000400401.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1255,
"cds_start": -4,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3349-887T>G",
"hgvs_p": null,
"transcript": "NM_001363389.2",
"protein_id": "NP_001350318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3334-887T>G",
"hgvs_p": null,
"transcript": "NM_001363390.2",
"protein_id": "NP_001350319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": -4,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3325-887T>G",
"hgvs_p": null,
"transcript": "NM_001167940.2",
"protein_id": "NP_001161412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3325-887T>G",
"hgvs_p": null,
"transcript": "NM_001363391.2",
"protein_id": "NP_001350320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3229-887T>G",
"hgvs_p": null,
"transcript": "NM_001363392.2",
"protein_id": "NP_001350321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": -4,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3214-887T>G",
"hgvs_p": null,
"transcript": "NM_001363393.2",
"protein_id": "NP_001350322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1263,
"cds_start": -4,
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"cds_length": 3792,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 23,
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"gene_symbol": "CADPS2",
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"hgvs_c": "c.3205-887T>G",
"hgvs_p": null,
"transcript": "NM_001363394.2",
"protein_id": "NP_001350323.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 22,
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"gene_symbol": "CADPS2",
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"hgvs_c": "c.3196-887T>G",
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"transcript": "NM_001363395.2",
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},
{
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],
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},
{
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],
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"gene_symbol": "CADPS2",
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},
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],
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"gene_symbol": "CADPS2",
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],
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},
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],
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},
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"gene_symbol": "CADPS2",
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"hgvs_c": "c.2731-887T>G",
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"transcript": "NM_001363400.2",
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],
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"transcript": "ENST00000397721.4",
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],
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},
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],
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"gene_symbol": "ENSG00000240499",
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"hgvs_c": "n.118+25913A>C",
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},
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "ENSG00000240499",
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"hgvs_c": "n.162+25913A>C",
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"hgvs_c": "c.3313-887T>G",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000718494.1",
"gene_symbol": "ENSG00000293696",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.671+25913A>C",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000591140.5",
"gene_symbol": "ENSG00000240499",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.181+25913A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}