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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: 15-90974249-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90974249&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90974249,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000394249.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "NM_003981.4",
"protein_id": "NP_003972.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "ENST00000394249.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "ENST00000394249.8",
"protein_id": "ENSP00000377793.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "NM_003981.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "ENST00000361188.9",
"protein_id": "ENSP00000354679.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284946",
"gene_hgnc_id": null,
"hgvs_c": "n.*1314-3C>T",
"hgvs_p": null,
"transcript": "ENST00000643536.1",
"protein_id": "ENSP00000494429.1",
"transcript_support_level": null,
"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": 6683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "NM_199413.3",
"protein_id": "NP_955445.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1228-3C>T",
"hgvs_p": null,
"transcript": "NM_001267580.2",
"protein_id": "NP_001254509.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1228-3C>T",
"hgvs_p": null,
"transcript": "ENST00000442656.6",
"protein_id": "ENSP00000409549.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.199-3C>T",
"hgvs_p": null,
"transcript": "ENST00000555455.5",
"protein_id": "ENSP00000451344.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.424-3C>T",
"hgvs_p": null,
"transcript": "ENST00000559828.1",
"protein_id": "ENSP00000453063.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRC1-AS1",
"gene_hgnc_id": 48587,
"hgvs_c": "n.339+7571G>A",
"hgvs_p": null,
"transcript": "ENST00000554388.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "n.241-3C>T",
"hgvs_p": null,
"transcript": "ENST00000559326.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 476,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRC1-AS1",
"gene_hgnc_id": 48587,
"hgvs_c": "n.363+5037G>A",
"hgvs_p": null,
"transcript": "ENST00000660154.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1104,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRC1-AS1",
"gene_hgnc_id": 48587,
"hgvs_c": "n.310+7571G>A",
"hgvs_p": null,
"transcript": "NR_051984.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "XM_011522187.3",
"protein_id": "XP_011520489.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "XM_011522188.4",
"protein_id": "XP_011520490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
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"cds_length": 1824,
"cdna_start": null,
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"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "XM_011522189.3",
"protein_id": "XP_011520491.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "XM_017022712.3",
"protein_id": "XP_016878201.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 583,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2961,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "XM_047433295.1",
"protein_id": "XP_047289251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2370,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "XM_017022713.3",
"protein_id": "XP_016878202.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1195-3C>T",
"hgvs_p": null,
"transcript": "XM_017022714.3",
"protein_id": "XP_016878203.1",
"transcript_support_level": null,
"aa_start": null,
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"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,
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1351-3C>T",
"hgvs_p": null,
"transcript": "XM_005254987.4",
"protein_id": "XP_005255044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": -4,
"cds_end": null,
"cds_length": 1701,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1180-3C>T",
"hgvs_p": null,
"transcript": "XM_011522190.4",
"protein_id": "XP_011520492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRC1",
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000554388.2",
"gene_symbol": "PRC1-AS1",
"hgnc_id": 48587,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.339+7571G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Familial cancer of breast",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Familial cancer of breast",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}