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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: 12-102148403-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=102148403&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 102148403,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000327680.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_017915.5",
"protein_id": "NP_060385.3",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 579,
"cds_start": 327,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "ENST00000327680.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "ENST00000327680.7",
"protein_id": "ENSP00000332915.3",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 579,
"cds_start": 327,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "NM_017915.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.228T>A",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000417507.6",
"protein_id": "ENSP00000411313.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 269,
"cds_start": 228,
"cds_end": null,
"cds_length": 810,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.228T>A",
"hgvs_p": "p.Asp76Glu",
"transcript": "ENST00000412715.3",
"protein_id": "ENSP00000393867.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 264,
"cds_start": 228,
"cds_end": null,
"cds_length": 795,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "ENST00000537257.5",
"protein_id": "ENSP00000442549.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 133,
"cds_start": 327,
"cds_end": null,
"cds_length": 402,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 976,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "n.55-5466T>A",
"hgvs_p": null,
"transcript": "ENST00000457614.6",
"protein_id": "ENSP00000404323.2",
"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": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001319988.2",
"protein_id": "NP_001306917.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 656,
"cds_start": 327,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "ENST00000541394.5",
"protein_id": "ENSP00000440850.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 656,
"cds_start": 327,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001400853.1",
"protein_id": "NP_001387782.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 577,
"cds_start": 327,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001400854.1",
"protein_id": "NP_001387783.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 543,
"cds_start": 327,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001382721.1",
"protein_id": "NP_001369650.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 522,
"cds_start": 327,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001400855.1",
"protein_id": "NP_001387784.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 500,
"cds_start": 327,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.84T>A",
"hgvs_p": "p.Asp28Glu",
"transcript": "NM_001319993.2",
"protein_id": "NP_001306922.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 498,
"cds_start": 84,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.84T>A",
"hgvs_p": "p.Asp28Glu",
"transcript": "NM_001319994.2",
"protein_id": "NP_001306923.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 498,
"cds_start": 84,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.84T>A",
"hgvs_p": "p.Asp28Glu",
"transcript": "ENST00000392911.6",
"protein_id": "ENSP00000376643.2",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 498,
"cds_start": 84,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001382723.1",
"protein_id": "NP_001369652.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 493,
"cds_start": 327,
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"cdna_start": 434,
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"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001400856.1",
"protein_id": "NP_001387785.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 486,
"cds_start": 327,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001382724.1",
"protein_id": "NP_001369653.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 458,
"cds_start": 327,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 2713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.84T>A",
"hgvs_p": "p.Asp28Glu",
"transcript": "NM_001400859.1",
"protein_id": "NP_001387788.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 441,
"cds_start": 84,
"cds_end": null,
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"cdna_start": 273,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.84T>A",
"hgvs_p": "p.Asp28Glu",
"transcript": "NM_001400860.1",
"protein_id": "NP_001387789.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 441,
"cds_start": 84,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 278,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.84T>A",
"hgvs_p": "p.Asp28Glu",
"transcript": "NM_001400861.1",
"protein_id": "NP_001387790.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 441,
"cds_start": 84,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001382725.1",
"protein_id": "NP_001369654.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 423,
"cds_start": 327,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARPBP",
"gene_hgnc_id": 26074,
"hgvs_c": "c.327T>A",
"hgvs_p": "p.Asp109Glu",
"transcript": "NM_001400862.1",
"protein_id": "NP_001387791.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 418,
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}