← 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: 2-74527986-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74527986&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74527986,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181575.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "NM_181575.5",
"protein_id": "NP_853553.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 410,
"cds_start": 692,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377526.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181575.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000377526.4",
"protein_id": "ENSP00000366748.3",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 410,
"cds_start": 692,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181575.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377526.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.692G>A",
"hgvs_p": null,
"transcript": "ENST00000425118.5",
"protein_id": "ENSP00000403430.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000425118.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.956G>A",
"hgvs_p": null,
"transcript": "ENST00000463900.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463900.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000890035.1",
"protein_id": "ENSP00000560094.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 422,
"cds_start": 692,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890035.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000954392.1",
"protein_id": "ENSP00000624451.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 421,
"cds_start": 692,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954392.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000890029.1",
"protein_id": "ENSP00000560088.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 420,
"cds_start": 692,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890029.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000890022.1",
"protein_id": "ENSP00000560081.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 411,
"cds_start": 692,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890022.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000890033.1",
"protein_id": "ENSP00000560092.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 409,
"cds_start": 692,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890033.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "ENST00000890037.1",
"protein_id": "ENSP00000560096.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 409,
"cds_start": 689,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890037.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000890024.1",
"protein_id": "ENSP00000560083.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 407,
"cds_start": 692,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890024.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "ENST00000954391.1",
"protein_id": "ENSP00000624450.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 401,
"cds_start": 665,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954391.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000890027.1",
"protein_id": "ENSP00000560086.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 392,
"cds_start": 692,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890027.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000890026.1",
"protein_id": "ENSP00000560085.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 386,
"cds_start": 692,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890026.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "ENST00000954390.1",
"protein_id": "ENSP00000624449.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 384,
"cds_start": 614,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954390.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "ENST00000890023.1",
"protein_id": "ENSP00000560082.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 370,
"cds_start": 692,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890023.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.554G>A",
"hgvs_p": "p.Arg185His",
"transcript": "ENST00000936888.1",
"protein_id": "ENSP00000606947.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 365,
"cds_start": 554,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936888.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.554G>A",
"hgvs_p": "p.Arg185His",
"transcript": "ENST00000890021.1",
"protein_id": "ENSP00000560080.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 364,
"cds_start": 554,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890021.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "ENST00000890034.1",
"protein_id": "ENSP00000560093.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 362,
"cds_start": 548,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890034.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182His",
"transcript": "ENST00000890031.1",
"protein_id": "ENSP00000560090.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 361,
"cds_start": 545,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890031.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176His",
"transcript": "ENST00000936889.1",
"protein_id": "ENSP00000606948.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 355,
"cds_start": 527,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936889.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169His",
"transcript": "ENST00000936887.1",
"protein_id": "ENSP00000606946.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 348,
"cds_start": 506,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936887.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"transcript": "ENST00000890032.1",
"protein_id": "ENSP00000560091.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 345,
"cds_start": 497,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890032.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000890028.1",
"protein_id": "ENSP00000560087.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 324,
"cds_start": 434,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890028.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Arg119His",
"transcript": "ENST00000890030.1",
"protein_id": "ENSP00000560089.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 298,
"cds_start": 356,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890030.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000890025.1",
"protein_id": "ENSP00000560084.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 249,
"cds_start": 209,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890025.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.71G>A",
"hgvs_p": "p.Arg24His",
"transcript": "ENST00000936886.1",
"protein_id": "ENSP00000606945.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 203,
"cds_start": 71,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936886.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Arg119His",
"transcript": "ENST00000936890.1",
"protein_id": "ENSP00000606949.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 185,
"cds_start": 356,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936890.1"
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.667-148G>A",
"hgvs_p": null,
"transcript": "ENST00000890036.1",
"protein_id": "ENSP00000560095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": null,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890036.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.595G>A",
"hgvs_p": null,
"transcript": "ENST00000464887.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.944G>A",
"hgvs_p": null,
"transcript": "ENST00000466894.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.100G>A",
"hgvs_p": null,
"transcript": "ENST00000486234.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.769G>A",
"hgvs_p": null,
"transcript": "NR_126510.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_126510.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.965G>A",
"hgvs_p": null,
"transcript": "NR_126511.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_126511.2"
}
],
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"dbsnp": "rs879539638",
"frequency_reference_population": 0.000012391359,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.00000957671,
"gnomad_genomes_af": 0.0000394353,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7440836429595947,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.66,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2011,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.159,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181575.5",
"gene_symbol": "AUP1",
"hgnc_id": 891,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}