← 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: 19-1612357-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1612357&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1612357,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000262965.12",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "NM_001136139.4",
"protein_id": "NP_001129611.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": "ENST00000588136.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "ENST00000588136.7",
"protein_id": "ENSP00000468487.1",
"transcript_support_level": 2,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": "NM_001136139.4",
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "NM_003200.5",
"protein_id": "NP_003191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": "ENST00000262965.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "ENST00000262965.12",
"protein_id": "ENSP00000262965.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": "NM_003200.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.1181-508G>A",
"hgvs_p": null,
"transcript": "ENST00000610756.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Glu583Lys",
"transcript": "ENST00000453954.6",
"protein_id": "ENSP00000396363.3",
"transcript_support_level": 5,
"aa_start": 583,
"aa_end": null,
"aa_length": 679,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "NM_001351779.2",
"protein_id": "NP_001338708.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Glu217Lys",
"transcript": "ENST00000590436.5",
"protein_id": "ENSP00000466952.2",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 313,
"cds_start": 649,
"cds_end": null,
"cds_length": 942,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Glu123Lys",
"transcript": "ENST00000590684.5",
"protein_id": "ENSP00000466565.2",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 219,
"cds_start": 367,
"cds_end": null,
"cds_length": 660,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Glu63Lys",
"transcript": "ENST00000585731.5",
"protein_id": "ENSP00000465510.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 159,
"cds_start": 187,
"cds_end": null,
"cds_length": 480,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Glu584Lys",
"transcript": "XM_006722855.5",
"protein_id": "XP_006722918.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 680,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Glu584Lys",
"transcript": "XM_017027178.2",
"protein_id": "XP_016882667.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 680,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 2709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Glu584Lys",
"transcript": "XM_047439262.1",
"protein_id": "XP_047295218.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 680,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "XM_047439268.1",
"protein_id": "XP_047295224.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "XM_047439269.1",
"protein_id": "XP_047295225.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "XM_047439281.1",
"protein_id": "XP_047295237.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "XM_047439282.1",
"protein_id": "XP_047295238.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "XM_047439283.1",
"protein_id": "XP_047295239.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "XM_047439284.1",
"protein_id": "XP_047295240.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_011528225.3",
"protein_id": "XP_011526527.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_011528226.3",
"protein_id": "XP_011526528.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439270.1",
"protein_id": "XP_047295226.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439271.1",
"protein_id": "XP_047295227.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 5934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439272.1",
"protein_id": "XP_047295228.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 5934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439273.1",
"protein_id": "XP_047295229.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439274.1",
"protein_id": "XP_047295230.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439285.1",
"protein_id": "XP_047295241.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439286.1",
"protein_id": "XP_047295242.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439287.1",
"protein_id": "XP_047295243.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439288.1",
"protein_id": "XP_047295244.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047439289.1",
"protein_id": "XP_047295245.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 650,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Glu553Lys",
"transcript": "XM_047439275.1",
"protein_id": "XP_047295231.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 649,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 3557,
"cdna_end": null,
"cdna_length": 6265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Glu553Lys",
"transcript": "XM_047439290.1",
"protein_id": "XP_047295246.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 649,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Glu553Lys",
"transcript": "XM_047439291.1",
"protein_id": "XP_047295247.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 649,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "XM_047439292.1",
"protein_id": "XP_047295248.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 600,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 5784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "XM_047439293.1",
"protein_id": "XP_047295249.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 600,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 4915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "XM_047439297.1",
"protein_id": "XP_047295253.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 600,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Glu503Lys",
"transcript": "XM_047439298.1",
"protein_id": "XP_047295254.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 599,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*235G>A",
"hgvs_p": null,
"transcript": "ENST00000585855.2",
"protein_id": "ENSP00000465481.1",
"transcript_support_level": 3,
"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": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*235G>A",
"hgvs_p": null,
"transcript": "ENST00000592395.5",
"protein_id": "ENSP00000465251.1",
"transcript_support_level": 5,
"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": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*36G>A",
"hgvs_p": null,
"transcript": "ENST00000651991.1",
"protein_id": "ENSP00000499183.1",
"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": 951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*235G>A",
"hgvs_p": null,
"transcript": "ENST00000585855.2",
"protein_id": "ENSP00000465481.1",
"transcript_support_level": 3,
"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": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*235G>A",
"hgvs_p": null,
"transcript": "ENST00000592395.5",
"protein_id": "ENSP00000465251.1",
"transcript_support_level": 5,
"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": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*36G>A",
"hgvs_p": null,
"transcript": "ENST00000651991.1",
"protein_id": "ENSP00000499183.1",
"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": 951,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1835-508G>A",
"hgvs_p": null,
"transcript": "ENST00000395423.7",
"protein_id": "ENSP00000378813.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2779,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1820-508G>A",
"hgvs_p": null,
"transcript": "NM_001351778.2",
"protein_id": "NP_001338707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2628,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.470-508G>A",
"hgvs_p": null,
"transcript": "ENST00000593064.5",
"protein_id": "ENSP00000468481.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2694,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.398-508G>A",
"hgvs_p": null,
"transcript": "ENST00000592628.5",
"protein_id": "ENSP00000465549.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1751,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.356-508G>A",
"hgvs_p": null,
"transcript": "ENST00000587425.5",
"protein_id": "ENSP00000467508.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*159-508G>A",
"hgvs_p": null,
"transcript": "ENST00000586164.1",
"protein_id": "ENSP00000467972.1",
"transcript_support_level": 3,
"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": 409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*1561-508G>A",
"hgvs_p": null,
"transcript": "ENST00000705032.1",
"protein_id": "ENSP00000516067.1",
"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": 3147,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1910-508G>A",
"hgvs_p": null,
"transcript": "XM_047439258.1",
"protein_id": "XP_047295214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4491,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1910-508G>A",
"hgvs_p": null,
"transcript": "XM_047439259.1",
"protein_id": "XP_047295215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2718,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1910-508G>A",
"hgvs_p": null,
"transcript": "XM_047439260.1",
"protein_id": "XP_047295216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3619,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1907-508G>A",
"hgvs_p": null,
"transcript": "XM_047439261.1",
"protein_id": "XP_047295217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": -4,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4485,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "XM_017027181.2",
"protein_id": "XP_016882670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4401,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "XM_047439263.1",
"protein_id": "XP_047295219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5946,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "XM_047439264.1",
"protein_id": "XP_047295220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5077,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "XM_047439265.1",
"protein_id": "XP_047295221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4176,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "XM_047439276.1",
"protein_id": "XP_047295232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4738,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "XM_047439277.1",
"protein_id": "XP_047295233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null,
"transcript": "XM_047439278.1",
"protein_id": "XP_047295234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2631,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1820-508G>A",
"hgvs_p": null,
"transcript": "XM_047439266.1",
"protein_id": "XP_047295222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5943,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1820-508G>A",
"hgvs_p": null,
"transcript": "XM_047439267.1",
"protein_id": "XP_047295223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5074,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1820-508G>A",
"hgvs_p": null,
"transcript": "XM_047439279.1",
"protein_id": "XP_047295235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4398,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1820-508G>A",
"hgvs_p": null,
"transcript": "XM_047439280.1",
"protein_id": "XP_047295236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1670-508G>A",
"hgvs_p": null,
"transcript": "XM_047439294.1",
"protein_id": "XP_047295250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": -4,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4248,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1670-508G>A",
"hgvs_p": null,
"transcript": "XM_047439295.1",
"protein_id": "XP_047295251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": -4,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4251,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1670-508G>A",
"hgvs_p": null,
"transcript": "XM_047439296.1",
"protein_id": "XP_047295252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": -4,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"dbsnp": "rs879255271",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9370251893997192,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.986,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.74,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262965.12",
"gene_symbol": "TCF3",
"hgnc_id": 11633,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1823-508G>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant,Agammaglobulinemia 8,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Agammaglobulinemia 8, autosomal dominant|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}