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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: 15-72253535-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72253535&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72253535,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000569795.6",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.1192-31A>C",
"hgvs_p": null,
"transcript": "NM_001323532.2",
"protein_id": "NP_001310461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": "ENST00000569795.6",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.1192-31A>C",
"hgvs_p": null,
"transcript": "ENST00000569795.6",
"protein_id": "ENSP00000456348.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": "NM_001323532.2",
"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": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.988-31A>C",
"hgvs_p": null,
"transcript": "ENST00000567974.5",
"protein_id": "ENSP00000455815.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1950,
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.1192-31A>C",
"hgvs_p": null,
"transcript": "ENST00000419739.7",
"protein_id": "ENSP00000403265.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "n.1384-31A>C",
"hgvs_p": null,
"transcript": "ENST00000544520.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "n.988-31A>C",
"hgvs_p": null,
"transcript": "ENST00000564610.5",
"protein_id": "ENSP00000456468.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1876,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.1192-31A>C",
"hgvs_p": null,
"transcript": "NM_001323525.2",
"protein_id": "NP_001310454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
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"cdna_length": 2791,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.1192-31A>C",
"hgvs_p": null,
"transcript": "NM_001323528.2",
"protein_id": "NP_001310457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2681,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.1192-31A>C",
"hgvs_p": null,
"transcript": "NM_001323531.2",
"protein_id": "NP_001310460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 15,
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"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.1192-31A>C",
"hgvs_p": null,
"transcript": "NM_001323522.2",
"protein_id": "NP_001310451.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 630,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 15,
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"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.1192-31A>C",
"hgvs_p": null,
"transcript": "NM_020214.4",
"protein_id": "NP_064599.2",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"gene_symbol": "PARP6",
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"hgvs_c": "c.1192-31A>C",
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"transcript": "ENST00000287196.13",
"protein_id": "ENSP00000287196.9",
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},
{
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],
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"gene_symbol": "PARP6",
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"hgvs_c": "c.1132-31A>C",
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"transcript": "NM_001323515.2",
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},
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],
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"gene_symbol": "PARP6",
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"hgvs_c": "c.1132-31A>C",
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"transcript": "NM_001323516.2",
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},
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],
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"gene_symbol": "PARP6",
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"hgvs_c": "c.1132-31A>C",
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},
{
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],
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"gene_symbol": "PARP6",
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"hgvs_c": "c.1132-31A>C",
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"gene_symbol": "PARP6",
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},
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],
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"gene_symbol": "PARP6",
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"hgvs_c": "c.1132-31A>C",
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"transcript": "NM_001323523.2",
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],
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"gene_symbol": "PARP6",
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},
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],
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"intron_rank": 12,
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"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "n.1956-31A>C",
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"transcript": "ENST00000413097.6",
"protein_id": null,
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"feature": null
},
{
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"consequences": [
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],
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"exon_count": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "n.1192-31A>C",
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"transcript": "ENST00000565443.5",
"protein_id": "ENSP00000456370.1",
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},
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000569795.6",
"gene_symbol": "PARP6",
"hgnc_id": 26921,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1192-31A>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
}