← 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: 3-71047008-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=71047008&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 71047008,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000647725.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "NM_001349338.3",
"protein_id": "NP_001336267.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "ENST00000649528.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000649528.3",
"protein_id": "ENSP00000497369.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "NM_001349338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000318789.11",
"protein_id": "ENSP00000318902.5",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 7103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000647725.1",
"protein_id": "ENSP00000497585.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Gln13*",
"transcript": "ENST00000475937.6",
"protein_id": "ENSP00000419393.2",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 490,
"cds_start": 37,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Gln13*",
"transcript": "ENST00000497355.7",
"protein_id": "ENSP00000418225.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 490,
"cds_start": 37,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "NM_001244810.2",
"protein_id": "NP_001231739.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 693,
"cds_start": 598,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000648426.1",
"protein_id": "ENSP00000498110.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 693,
"cds_start": 598,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "NM_001244814.3",
"protein_id": "NP_001231743.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "NM_001244816.2",
"protein_id": "NP_001231745.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "NM_001349340.3",
"protein_id": "NP_001336269.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "NM_032682.6",
"protein_id": "NP_116071.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000498215.7",
"protein_id": "ENSP00000418102.1",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000648380.1",
"protein_id": "ENSP00000497344.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000649631.1",
"protein_id": "ENSP00000496990.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000650068.2",
"protein_id": "ENSP00000497454.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 677,
"cds_start": 598,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "NM_001244808.3",
"protein_id": "NP_001231737.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 676,
"cds_start": 598,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Gln199*",
"transcript": "NM_001349341.3",
"protein_id": "NP_001336270.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 676,
"cds_start": 595,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000493089.7",
"protein_id": "ENSP00000418524.1",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 676,
"cds_start": 598,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000648710.2",
"protein_id": "ENSP00000497430.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 676,
"cds_start": 598,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000648718.1",
"protein_id": "ENSP00000496810.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 676,
"cds_start": 598,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Gln199*",
"transcript": "ENST00000649610.2",
"protein_id": "ENSP00000497693.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 676,
"cds_start": 595,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Gln199*",
"transcript": "ENST00000649596.1",
"protein_id": "ENSP00000496932.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 675,
"cds_start": 595,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Gln199*",
"transcript": "ENST00000468577.6",
"protein_id": "ENSP00000418883.2",
"transcript_support_level": 5,
"aa_start": 199,
"aa_end": null,
"aa_length": 612,
"cds_start": 595,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Gln124*",
"transcript": "NM_001244812.3",
"protein_id": "NP_001231741.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 601,
"cds_start": 370,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Gln124*",
"transcript": "ENST00000484350.5",
"protein_id": "ENSP00000417857.1",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 601,
"cds_start": 370,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "NM_001244813.3",
"protein_id": "NP_001231742.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 577,
"cds_start": 298,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 6392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "NM_001244815.2",
"protein_id": "NP_001231744.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 577,
"cds_start": 298,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 6482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "NM_001349342.3",
"protein_id": "NP_001336271.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 577,
"cds_start": 298,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 6500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "ENST00000648748.3",
"protein_id": "ENSP00000497077.3",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 577,
"cds_start": 298,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "ENST00000649592.1",
"protein_id": "ENSP00000496968.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 577,
"cds_start": 298,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "ENST00000650387.1",
"protein_id": "ENSP00000497567.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 577,
"cds_start": 298,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Gln99*",
"transcript": "NM_001349337.2",
"protein_id": "NP_001336266.2",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 576,
"cds_start": 295,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Gln99*",
"transcript": "NM_001349343.3",
"protein_id": "NP_001336272.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 576,
"cds_start": 295,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Gln99*",
"transcript": "NM_001349344.3",
"protein_id": "NP_001336273.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 576,
"cds_start": 295,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 6389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "NM_001370548.1",
"protein_id": "NP_001357477.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 576,
"cds_start": 298,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Gln99*",
"transcript": "ENST00000491238.8",
"protein_id": "ENSP00000420736.3",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 576,
"cds_start": 295,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Gln99*",
"transcript": "ENST00000614176.5",
"protein_id": "ENSP00000482847.2",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 576,
"cds_start": 295,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Gln99*",
"transcript": "ENST00000648794.2",
"protein_id": "ENSP00000497435.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 576,
"cds_start": 295,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "ENST00000649695.3",
"protein_id": "ENSP00000496841.3",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 576,
"cds_start": 298,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "ENST00000650188.1",
"protein_id": "ENSP00000497096.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 576,
"cds_start": 298,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Gln13*",
"transcript": "ENST00000649513.1",
"protein_id": "ENSP00000497237.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 467,
"cds_start": 37,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*",
"transcript": "ENST00000649431.2",
"protein_id": "ENSP00000498174.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 448,
"cds_start": 598,
"cds_end": null,
"cds_length": 1348,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"transcript": "ENST00000472382.7",
"protein_id": "ENSP00000484963.3",
"transcript_support_level": 3,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 418,
"cds_end": null,
"cds_length": 714,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Gln98*",
"transcript": "ENST00000485326.7",
"protein_id": "ENSP00000417941.3",
"transcript_support_level": 3,
"aa_start": 98,
"aa_end": null,
"aa_length": 230,
"cds_start": 292,
"cds_end": null,
"cds_length": 694,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Gln99*",
"transcript": "ENST00000647614.1",
"protein_id": "ENSP00000497710.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 209,
"cds_start": 295,
"cds_end": null,
"cds_length": 630,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Gln100*",
"transcript": "ENST00000497553.4",
"protein_id": "ENSP00000418784.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 122,
"cds_start": 298,
"cds_end": null,
"cds_length": 369,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 450,
"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": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.598C>T",
"hgvs_p": null,
"transcript": "ENST00000327590.9",
"protein_id": "ENSP00000333560.4",
"transcript_support_level": 2,
"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": 5813,
"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": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.1029C>T",
"hgvs_p": null,
"transcript": "ENST00000615603.5",
"protein_id": null,
"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": 4967,
"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": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.423C>T",
"hgvs_p": null,
"transcript": "ENST00000647776.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1177,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.598C>T",
"hgvs_p": null,
"transcript": "ENST00000648321.1",
"protein_id": "ENSP00000498015.1",
"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": 2483,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.595C>T",
"hgvs_p": null,
"transcript": "ENST00000648384.1",
"protein_id": "ENSP00000497976.1",
"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": 2433,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.70C>T",
"hgvs_p": null,
"transcript": "ENST00000649417.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1613,
"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": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "n.*862C>T",
"hgvs_p": null,
"transcript": "ENST00000650123.1",
"protein_id": "ENSP00000497033.1",
"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": 2559,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.298C>T",
"hgvs_p": null,
"transcript": "ENST00000650402.1",
"protein_id": "ENSP00000497563.1",
"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": 1789,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.421C>T",
"hgvs_p": null,
"transcript": "ENST00000650580.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2406,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.1202C>T",
"hgvs_p": null,
"transcript": "NR_146142.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7089,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.1199C>T",
"hgvs_p": null,
"transcript": "NR_146143.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7086,
"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": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "n.*862C>T",
"hgvs_p": null,
"transcript": "ENST00000650123.1",
"protein_id": "ENSP00000497033.1",
"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": 2559,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.210+5529C>T",
"hgvs_p": null,
"transcript": "ENST00000648654.1",
"protein_id": "ENSP00000497181.1",
"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": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "n.*50C>T",
"hgvs_p": null,
"transcript": "ENST00000649760.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"dbsnp": "rs1553709919",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.955,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000647725.1",
"gene_symbol": "ENSG00000285708",
"hgnc_id": null,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000649528.3",
"gene_symbol": "FOXP1",
"hgnc_id": 3823,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Gln200*"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}