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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: 3-58395560-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58395560&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58395560,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000356151.7",
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.721-98G>T",
"hgvs_p": null,
"transcript": "NM_017771.5",
"protein_id": "NP_060241.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": "ENST00000356151.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.721-98G>T",
"hgvs_p": null,
"transcript": "ENST00000356151.7",
"protein_id": "ENSP00000348472.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": "NM_017771.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.721-98G>T",
"hgvs_p": null,
"transcript": "ENST00000302779.9",
"protein_id": "ENSP00000305045.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.721-98G>T",
"hgvs_p": null,
"transcript": "ENST00000383716.7",
"protein_id": "ENSP00000373222.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.721-98G>T",
"hgvs_p": null,
"transcript": "ENST00000484288.5",
"protein_id": "ENSP00000417915.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "n.*264-98G>T",
"hgvs_p": null,
"transcript": "ENST00000468776.5",
"protein_id": "ENSP00000417167.1",
"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": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "n.*68-98G>T",
"hgvs_p": null,
"transcript": "ENST00000477308.5",
"protein_id": "ENSP00000420403.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.721-98G>T",
"hgvs_p": null,
"transcript": "NM_001349492.2",
"protein_id": "NP_001336421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 581,
"cds_start": -4,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.721-98G>T",
"hgvs_p": null,
"transcript": "NM_001349493.2",
"protein_id": "NP_001336422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.670-98G>T",
"hgvs_p": null,
"transcript": "NM_001289095.2",
"protein_id": "NP_001276024.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 563,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
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"gene_symbol": "PXK",
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"hgvs_c": "c.670-98G>T",
"hgvs_p": null,
"transcript": "ENST00000479241.5",
"protein_id": "ENSP00000419049.1",
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},
{
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],
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"gene_symbol": "PXK",
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"transcript": "NM_001349494.2",
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},
{
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],
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"gene_symbol": "PXK",
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"hgvs_c": "c.673-98G>T",
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},
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],
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"gene_symbol": "PXK",
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],
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},
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],
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],
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},
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],
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"gene_symbol": "PXK",
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"hgvs_c": "c.622-98G>T",
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"transcript": "NM_001289096.2",
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],
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"exon_count": 16,
"intron_rank": 6,
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"gene_symbol": "PXK",
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"hgvs_c": "c.622-98G>T",
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"transcript": "NM_001349500.2",
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],
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},
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],
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"gene_symbol": "PXK",
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"hgvs_c": "c.721-98G>T",
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"transcript": "NM_001289098.2",
"protein_id": "NP_001276027.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "PXK",
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"hgvs_c": "c.721-98G>T",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"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": "ENST00000356151.7",
"gene_symbol": "PXK",
"hgnc_id": 23326,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.721-98G>T",
"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
}