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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: 3-15256253-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15256253&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15256253,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004844.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1201A>C",
"hgvs_p": "p.Asn401His",
"transcript": "NM_004844.5",
"protein_id": "NP_004835.2",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 455,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "ENST00000383791.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004844.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1201A>C",
"hgvs_p": "p.Asn401His",
"transcript": "ENST00000383791.8",
"protein_id": "ENSP00000373301.3",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 455,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "NM_004844.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383791.8"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.730A>C",
"hgvs_p": "p.Asn244His",
"transcript": "ENST00000408919.7",
"protein_id": "ENSP00000386231.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 298,
"cds_start": 730,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408919.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5-AS1",
"gene_hgnc_id": 44501,
"hgvs_c": "n.2070T>G",
"hgvs_p": null,
"transcript": "ENST00000420195.1",
"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": 5570,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000420195.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1261A>C",
"hgvs_p": "p.Asn421His",
"transcript": "ENST00000947043.1",
"protein_id": "ENSP00000617102.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947043.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1198A>C",
"hgvs_p": "p.Asn400His",
"transcript": "ENST00000947042.1",
"protein_id": "ENSP00000617101.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 454,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947042.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1171A>C",
"hgvs_p": "p.Asn391His",
"transcript": "ENST00000885923.1",
"protein_id": "ENSP00000555982.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 445,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885923.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1042A>C",
"hgvs_p": "p.Asn348His",
"transcript": "ENST00000885925.1",
"protein_id": "ENSP00000555984.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 402,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885925.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1036A>C",
"hgvs_p": "p.Asn346His",
"transcript": "ENST00000885926.1",
"protein_id": "ENSP00000555985.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 400,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885926.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1033A>C",
"hgvs_p": "p.Asn345His",
"transcript": "ENST00000947046.1",
"protein_id": "ENSP00000617105.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 399,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947046.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1027A>C",
"hgvs_p": "p.Asn343His",
"transcript": "ENST00000947045.1",
"protein_id": "ENSP00000617104.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 397,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947045.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.940A>C",
"hgvs_p": "p.Asn314His",
"transcript": "ENST00000885924.1",
"protein_id": "ENSP00000555983.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 368,
"cds_start": 940,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885924.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.910A>C",
"hgvs_p": "p.Asn304His",
"transcript": "ENST00000885927.1",
"protein_id": "ENSP00000555986.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 358,
"cds_start": 910,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885927.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.907A>C",
"hgvs_p": "p.Asn303His",
"transcript": "ENST00000947044.1",
"protein_id": "ENSP00000617103.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 357,
"cds_start": 907,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947044.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.775A>C",
"hgvs_p": "p.Asn259His",
"transcript": "ENST00000885928.1",
"protein_id": "ENSP00000555987.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 313,
"cds_start": 775,
"cds_end": null,
"cds_length": 942,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885928.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.730A>C",
"hgvs_p": "p.Asn244His",
"transcript": "NM_001018009.4",
"protein_id": "NP_001018009.2",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 298,
"cds_start": 730,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018009.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.730A>C",
"hgvs_p": "p.Asn244His",
"transcript": "ENST00000426925.5",
"protein_id": "ENSP00000388553.1",
"transcript_support_level": 2,
"aa_start": 244,
"aa_end": null,
"aa_length": 298,
"cds_start": 730,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426925.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1180A>C",
"hgvs_p": "p.Asn394His",
"transcript": "XM_017007525.2",
"protein_id": "XP_016863014.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 448,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007525.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1162A>C",
"hgvs_p": "p.Asn388His",
"transcript": "XM_047449240.1",
"protein_id": "XP_047305196.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 442,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449240.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.1081A>C",
"hgvs_p": "p.Asn361His",
"transcript": "XM_011534251.3",
"protein_id": "XP_011532553.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 415,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534251.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.940A>C",
"hgvs_p": "p.Asn314His",
"transcript": "XM_047449241.1",
"protein_id": "XP_047305197.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 368,
"cds_start": 940,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449241.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Asn274His",
"transcript": "XM_047449242.1",
"protein_id": "XP_047305198.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 328,
"cds_start": 820,
"cds_end": null,
"cds_length": 987,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047449242.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
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"hgvs_c": "c.730A>C",
"hgvs_p": "p.Asn244His",
"transcript": "XM_047449244.1",
"protein_id": "XP_047305200.1",
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"cdna_start": 1135,
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"cdna_length": 3035,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047449244.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
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"hgvs_c": "c.730A>C",
"hgvs_p": "p.Asn244His",
"transcript": "XM_047449245.1",
"protein_id": "XP_047305201.1",
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"aa_start": 244,
"aa_end": null,
"aa_length": 298,
"cds_start": 730,
"cds_end": null,
"cds_length": 897,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2876,
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"biotype": "protein_coding",
"feature": "XM_047449245.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
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"hgvs_c": "n.*329A>C",
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"transcript": "ENST00000412806.1",
"protein_id": "ENSP00000400128.1",
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"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": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412806.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
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"intron_rank_end": null,
"gene_symbol": "SH3BP5-AS1",
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"hgvs_c": "n.2070T>G",
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"transcript": "NR_046084.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_length": 5575,
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"biotype": "pseudogene",
"feature": "NR_046084.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "SH3BP5",
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"transcript": "ENST00000412806.1",
"protein_id": "ENSP00000400128.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1900,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412806.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5-AS1",
"gene_hgnc_id": 44501,
"hgvs_c": "n.-226T>G",
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"transcript": "ENST00000668440.1",
"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": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000668440.1"
}
],
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"dbsnp": "rs34419005",
"frequency_reference_population": 0.000112129295,
"hom_count_reference_population": 0,
"allele_count_reference_population": 181,
"gnomad_exomes_af": 0.000112869,
"gnomad_genomes_af": 0.000105031,
"gnomad_exomes_ac": 165,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0760018527507782,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.0568,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.918,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004844.5",
"gene_symbol": "SH3BP5",
"hgnc_id": 10827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1201A>C",
"hgvs_p": "p.Asn401His"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000420195.1",
"gene_symbol": "SH3BP5-AS1",
"hgnc_id": 44501,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2070T>G",
"hgvs_p": null
}
],
"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
}