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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: 9-69218351-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=69218351&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 69218351,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001170416.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "NM_004817.4",
"protein_id": "NP_004808.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1190,
"cds_start": 334,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377245.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004817.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000377245.9",
"protein_id": "ENSP00000366453.4",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 1190,
"cds_start": 334,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004817.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377245.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285130",
"gene_hgnc_id": null,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Ala241Thr",
"transcript": "ENST00000642889.1",
"protein_id": "ENSP00000493780.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1319,
"cds_start": 721,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642889.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000348208.9",
"protein_id": "ENSP00000345893.4",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 1043,
"cds_start": 334,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348208.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "n.413G>A",
"hgvs_p": null,
"transcript": "ENST00000636247.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000636247.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"transcript": "ENST00000636438.1",
"protein_id": "ENSP00000489860.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 1249,
"cds_start": 511,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636438.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "NM_001170416.2",
"protein_id": "NP_001163887.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1221,
"cds_start": 427,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170416.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000539225.2",
"protein_id": "ENSP00000438262.1",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 1221,
"cds_start": 427,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539225.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "NM_001369875.1",
"protein_id": "NP_001356804.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1194,
"cds_start": 346,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369875.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Ala113Thr",
"transcript": "ENST00000650084.1",
"protein_id": "ENSP00000497861.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1191,
"cds_start": 337,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650084.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Ala89Thr",
"transcript": "NM_001369871.1",
"protein_id": "NP_001356800.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 1167,
"cds_start": 265,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369871.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Ala89Thr",
"transcript": "NM_001369870.1",
"protein_id": "NP_001356799.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 1165,
"cds_start": 265,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369870.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "NM_001170415.1",
"protein_id": "NP_001163886.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1157,
"cds_start": 346,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170415.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000535702.6",
"protein_id": "ENSP00000442090.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 1157,
"cds_start": 346,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535702.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "NM_001369872.1",
"protein_id": "NP_001356801.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1153,
"cds_start": 334,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369872.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000896723.1",
"protein_id": "ENSP00000566782.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1153,
"cds_start": 334,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896723.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000896724.1",
"protein_id": "ENSP00000566783.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1151,
"cds_start": 334,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896724.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Ala89Thr",
"transcript": "ENST00000650333.1",
"protein_id": "ENSP00000496791.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 1128,
"cds_start": 265,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650333.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000649943.1",
"protein_id": "ENSP00000497539.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1099,
"cds_start": 334,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649943.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000965865.1",
"protein_id": "ENSP00000635924.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1087,
"cds_start": 334,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965865.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "NM_001369873.1",
"protein_id": "NP_001356802.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1082,
"cds_start": 334,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369873.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000896725.1",
"protein_id": "ENSP00000566784.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1074,
"cds_start": 334,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896725.1"
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
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"hgvs_c": "n.651G>A",
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"transcript": "ENST00000648087.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000648087.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "n.358G>A",
"hgvs_p": null,
"transcript": "ENST00000649783.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000649783.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "n.362G>A",
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"transcript": "ENST00000650378.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000650378.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "n.358G>A",
"hgvs_p": null,
"transcript": "ENST00000650522.1",
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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": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000650522.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285130",
"gene_hgnc_id": null,
"hgvs_c": "n.*522G>A",
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"transcript": "ENST00000643352.1",
"protein_id": "ENSP00000496488.1",
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"aa_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643352.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285130",
"gene_hgnc_id": null,
"hgvs_c": "n.*641G>A",
"hgvs_p": null,
"transcript": "ENST00000645088.1",
"protein_id": "ENSP00000495447.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"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": "ENST00000645088.1"
}
],
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"dbsnp": "rs144396411",
"frequency_reference_population": 0.000276341,
"hom_count_reference_population": 3,
"allele_count_reference_population": 446,
"gnomad_exomes_af": 0.000286662,
"gnomad_genomes_af": 0.000177284,
"gnomad_exomes_ac": 419,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05799037218093872,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.776,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.813,
"phylop100way_prediction": "Pathogenic",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 9,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001170416.2",
"gene_symbol": "TJP2",
"hgnc_id": 11828,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr"
},
{
"score": -8,
"benign_score": 9,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000642889.1",
"gene_symbol": "ENSG00000285130",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Ala241Thr"
}
],
"clinvar_disease": "TJP2-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not provided|TJP2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}