← Back to variant description
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: X-134796137-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=134796137&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 134796137,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001387468.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001387468.1",
"protein_id": "NP_001374397.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 267,
"cds_start": 69,
"cds_end": null,
"cds_length": 804,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4377,
"mane_select": "ENST00000343004.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "ENST00000343004.10",
"protein_id": "ENSP00000339207.6",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 267,
"cds_start": 69,
"cds_end": null,
"cds_length": 804,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4377,
"mane_select": "NM_001387468.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "ENST00000370790.5",
"protein_id": "ENSP00000359826.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 247,
"cds_start": 69,
"cds_end": null,
"cds_length": 744,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001331088.1",
"protein_id": "NP_001318017.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 271,
"cds_start": 69,
"cds_end": null,
"cds_length": 816,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001331089.1",
"protein_id": "NP_001318018.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 270,
"cds_start": 69,
"cds_end": null,
"cds_length": 813,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "ENST00000611027.2",
"protein_id": "ENSP00000479150.2",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 267,
"cds_start": 69,
"cds_end": null,
"cds_length": 804,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001170756.1",
"protein_id": "NP_001164227.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 266,
"cds_start": 69,
"cds_end": null,
"cds_length": 801,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "ENST00000493333.5",
"protein_id": "ENSP00000487221.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 266,
"cds_start": 69,
"cds_end": null,
"cds_length": 801,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_145284.5",
"protein_id": "NP_660327.2",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 248,
"cds_start": 69,
"cds_end": null,
"cds_length": 747,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "ENST00000486347.5",
"protein_id": "ENSP00000419592.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 248,
"cds_start": 69,
"cds_end": null,
"cds_length": 747,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001166599.3",
"protein_id": "NP_001160071.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 247,
"cds_start": 69,
"cds_end": null,
"cds_length": 744,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001387469.1",
"protein_id": "NP_001374398.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 246,
"cds_start": 69,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001331092.1",
"protein_id": "NP_001318021.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 242,
"cds_start": 69,
"cds_end": null,
"cds_length": 729,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001166600.3",
"protein_id": "NP_001160072.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 241,
"cds_start": 69,
"cds_end": null,
"cds_length": 726,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "ENST00000298090.10",
"protein_id": "ENSP00000298090.6",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 241,
"cds_start": 69,
"cds_end": null,
"cds_length": 726,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001331090.1",
"protein_id": "NP_001318019.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 227,
"cds_start": 69,
"cds_end": null,
"cds_length": 684,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001331091.1",
"protein_id": "NP_001318020.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 226,
"cds_start": 69,
"cds_end": null,
"cds_length": 681,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001331094.1",
"protein_id": "NP_001318023.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 223,
"cds_start": 69,
"cds_end": null,
"cds_length": 672,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "NM_001331093.1",
"protein_id": "NP_001318022.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 222,
"cds_start": 69,
"cds_end": null,
"cds_length": 669,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_011531282.3",
"protein_id": "XP_011529584.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 293,
"cds_start": 69,
"cds_end": null,
"cds_length": 882,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_011531283.3",
"protein_id": "XP_011529585.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 292,
"cds_start": 69,
"cds_end": null,
"cds_length": 879,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_011531284.3",
"protein_id": "XP_011529586.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 289,
"cds_start": 69,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_011531285.3",
"protein_id": "XP_011529587.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 288,
"cds_start": 69,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_011531286.3",
"protein_id": "XP_011529588.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 274,
"cds_start": 69,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_047441873.1",
"protein_id": "XP_047297829.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 273,
"cds_start": 69,
"cds_end": null,
"cds_length": 822,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_011531288.3",
"protein_id": "XP_011529590.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 270,
"cds_start": 69,
"cds_end": null,
"cds_length": 813,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_011531290.3",
"protein_id": "XP_011529592.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 269,
"cds_start": 69,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_047441874.1",
"protein_id": "XP_047297830.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 252,
"cds_start": 69,
"cds_end": null,
"cds_length": 759,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_047441875.1",
"protein_id": "XP_047297831.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 251,
"cds_start": 69,
"cds_end": null,
"cds_length": 756,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_011531292.3",
"protein_id": "XP_011529594.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 245,
"cds_start": 69,
"cds_end": null,
"cds_length": 738,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser",
"transcript": "XM_047441876.1",
"protein_id": "XP_047297832.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 241,
"cds_start": 69,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3445,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.-26+984C>T",
"hgvs_p": null,
"transcript": "NM_001170757.2",
"protein_id": "NP_001164228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.-408G>A",
"hgvs_p": null,
"transcript": "NM_001365743.2",
"protein_id": "NP_001352672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.-481G>A",
"hgvs_p": null,
"transcript": "NM_001388444.1",
"protein_id": "NP_001375373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.-408G>A",
"hgvs_p": null,
"transcript": "NM_001365744.3",
"protein_id": "NP_001352673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.-481G>A",
"hgvs_p": null,
"transcript": "NM_001388446.1",
"protein_id": "NP_001375375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.-481G>A",
"hgvs_p": null,
"transcript": "NM_001170780.3",
"protein_id": "NP_001164251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.-382G>A",
"hgvs_p": null,
"transcript": "NM_001388441.1",
"protein_id": "NP_001375370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.-408G>A",
"hgvs_p": null,
"transcript": "NM_001388442.1",
"protein_id": "NP_001375371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.-227G>A",
"hgvs_p": null,
"transcript": "NR_170982.1",
"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,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"dbsnp": "rs141836070",
"frequency_reference_population": 0.00029044677,
"hom_count_reference_population": 103,
"allele_count_reference_population": 351,
"gnomad_exomes_af": 0.000300548,
"gnomad_genomes_af": 0.000190062,
"gnomad_exomes_ac": 330,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.273,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001387468.1",
"gene_symbol": "PABIR2",
"hgnc_id": 30490,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Ser23Ser"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001365743.2",
"gene_symbol": "PABIR3",
"hgnc_id": 25202,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-408G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}