← 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: 14-64449568-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64449568&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64449568,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001304508.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB25",
"gene_hgnc_id": 13112,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000555220.5",
"protein_id": "ENSP00000450718.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 86,
"cds_start": 244,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555220.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "NM_005956.4",
"protein_id": "NP_005947.3",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 935,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652337.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005956.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "ENST00000652337.1",
"protein_id": "ENSP00000498336.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 935,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005956.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652337.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB25",
"gene_hgnc_id": 13112,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "NM_001304508.1",
"protein_id": "NP_001291437.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 86,
"cds_start": 244,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304508.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "NM_001364837.1",
"protein_id": "NP_001351766.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 964,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364837.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "ENST00000545908.6",
"protein_id": "ENSP00000438588.2",
"transcript_support_level": 2,
"aa_start": 801,
"aa_end": null,
"aa_length": 964,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545908.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2484C>T",
"hgvs_p": "p.Ala828Ala",
"transcript": "ENST00000900031.1",
"protein_id": "ENSP00000570090.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 962,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900031.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2454C>T",
"hgvs_p": "p.Ala818Ala",
"transcript": "ENST00000940490.1",
"protein_id": "ENSP00000610549.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 952,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940490.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "ENST00000940495.1",
"protein_id": "ENSP00000610554.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 935,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940495.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "ENST00000941180.1",
"protein_id": "ENSP00000611239.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 935,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941180.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2394C>T",
"hgvs_p": "p.Ala798Ala",
"transcript": "ENST00000900023.1",
"protein_id": "ENSP00000570082.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 932,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900023.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2376C>T",
"hgvs_p": "p.Ala792Ala",
"transcript": "ENST00000940488.1",
"protein_id": "ENSP00000610547.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 926,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940488.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "ENST00000557370.3",
"protein_id": "ENSP00000477199.2",
"transcript_support_level": 2,
"aa_start": 801,
"aa_end": null,
"aa_length": 922,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557370.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2334C>T",
"hgvs_p": "p.Ala778Ala",
"transcript": "ENST00000900025.1",
"protein_id": "ENSP00000570084.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 912,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900025.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2262C>T",
"hgvs_p": "p.Ala754Ala",
"transcript": "ENST00000940494.1",
"protein_id": "ENSP00000610553.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 888,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940494.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Ala752Ala",
"transcript": "ENST00000940489.1",
"protein_id": "ENSP00000610548.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 886,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940489.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "ENST00000697168.1",
"protein_id": "ENSP00000513156.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 884,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697168.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2250C>T",
"hgvs_p": "p.Ala750Ala",
"transcript": "ENST00000940486.1",
"protein_id": "ENSP00000610545.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 884,
"cds_start": 2250,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940486.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2193C>T",
"hgvs_p": "p.Ala731Ala",
"transcript": "ENST00000940485.1",
"protein_id": "ENSP00000610544.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 865,
"cds_start": 2193,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940485.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2163C>T",
"hgvs_p": "p.Ala721Ala",
"transcript": "ENST00000900024.1",
"protein_id": "ENSP00000570083.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 855,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900024.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2160C>T",
"hgvs_p": "p.Ala720Ala",
"transcript": "ENST00000554768.6",
"protein_id": "ENSP00000477501.2",
"transcript_support_level": 4,
"aa_start": 720,
"aa_end": null,
"aa_length": 854,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554768.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2160C>T",
"hgvs_p": "p.Ala720Ala",
"transcript": "ENST00000557539.2",
"protein_id": "ENSP00000476468.2",
"transcript_support_level": 4,
"aa_start": 720,
"aa_end": null,
"aa_length": 854,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557539.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2160C>T",
"hgvs_p": "p.Ala720Ala",
"transcript": "ENST00000697173.1",
"protein_id": "ENSP00000513159.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 854,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697173.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.Ala718Ala",
"transcript": "ENST00000697174.1",
"protein_id": "ENSP00000513160.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 852,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697174.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2151C>T",
"hgvs_p": "p.Ala717Ala",
"transcript": "ENST00000940496.1",
"protein_id": "ENSP00000610555.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 851,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940496.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"transcript": "ENST00000900022.1",
"protein_id": "ENSP00000570081.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 848,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900022.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2109C>T",
"hgvs_p": "p.Ala703Ala",
"transcript": "ENST00000900021.1",
"protein_id": "ENSP00000570080.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 837,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900021.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2262C>T",
"hgvs_p": "p.Ala754Ala",
"transcript": "ENST00000940493.1",
"protein_id": "ENSP00000610552.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 837,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940493.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2040C>T",
"hgvs_p": "p.Ala680Ala",
"transcript": "ENST00000940487.1",
"protein_id": "ENSP00000610546.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 814,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940487.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1974C>T",
"hgvs_p": "p.Ala658Ala",
"transcript": "ENST00000940492.1",
"protein_id": "ENSP00000610551.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 792,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940492.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1899C>T",
"hgvs_p": "p.Ala633Ala",
"transcript": "ENST00000900027.1",
"protein_id": "ENSP00000570086.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 767,
"cds_start": 1899,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900027.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1866C>T",
"hgvs_p": "p.Ala622Ala",
"transcript": "ENST00000900026.1",
"protein_id": "ENSP00000570085.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 756,
"cds_start": 1866,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900026.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Ala588Ala",
"transcript": "ENST00000900030.1",
"protein_id": "ENSP00000570089.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 722,
"cds_start": 1764,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900030.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1617C>T",
"hgvs_p": "p.Ala539Ala",
"transcript": "ENST00000900029.1",
"protein_id": "ENSP00000570088.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 673,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900029.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1635C>T",
"hgvs_p": "p.Ala545Ala",
"transcript": "ENST00000652509.1",
"protein_id": "ENSP00000499176.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 643,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB25",
"gene_hgnc_id": 13112,
"hgvs_c": "c.*42G>A",
"hgvs_p": null,
"transcript": "ENST00000555424.1",
"protein_id": "ENSP00000451046.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1884+8115C>T",
"hgvs_p": null,
"transcript": "ENST00000900028.1",
"protein_id": "ENSP00000570087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900028.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1675-8646C>T",
"hgvs_p": null,
"transcript": "ENST00000940491.1",
"protein_id": "ENSP00000610550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.725C>T",
"hgvs_p": null,
"transcript": "ENST00000553405.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.68C>T",
"hgvs_p": null,
"transcript": "ENST00000556284.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000556284.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.3519C>T",
"hgvs_p": null,
"transcript": "ENST00000650853.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000650853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.2403C>T",
"hgvs_p": null,
"transcript": "ENST00000651537.1",
"protein_id": "ENSP00000498511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.390C>T",
"hgvs_p": null,
"transcript": "ENST00000651891.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000651891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.2160C>T",
"hgvs_p": null,
"transcript": "ENST00000652179.1",
"protein_id": "ENSP00000498649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652179.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.2552C>T",
"hgvs_p": null,
"transcript": "ENST00000697166.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.*1087C>T",
"hgvs_p": null,
"transcript": "ENST00000697167.1",
"protein_id": "ENSP00000513155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.*404C>T",
"hgvs_p": null,
"transcript": "ENST00000697169.1",
"protein_id": "ENSP00000513157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697169.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.3567C>T",
"hgvs_p": null,
"transcript": "ENST00000697170.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697170.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.2403C>T",
"hgvs_p": null,
"transcript": "ENST00000697171.1",
"protein_id": "ENSP00000513158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.*1199C>T",
"hgvs_p": null,
"transcript": "ENST00000697175.1",
"protein_id": "ENSP00000513161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.858C>T",
"hgvs_p": null,
"transcript": "ENST00000697177.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697177.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.*1087C>T",
"hgvs_p": null,
"transcript": "ENST00000697167.1",
"protein_id": "ENSP00000513155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.*404C>T",
"hgvs_p": null,
"transcript": "ENST00000697169.1",
"protein_id": "ENSP00000513157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697169.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.*1199C>T",
"hgvs_p": null,
"transcript": "ENST00000697175.1",
"protein_id": "ENSP00000513161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.2036+1251C>T",
"hgvs_p": null,
"transcript": "ENST00000697176.1",
"protein_id": "ENSP00000513162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697176.1"
}
],
"gene_symbol": "ZBTB25",
"gene_hgnc_id": 13112,
"dbsnp": "rs745539820",
"frequency_reference_population": 0.00000889272,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000889272,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05343714356422424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0883,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.132,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001304508.1",
"gene_symbol": "ZBTB25",
"hgnc_id": 13112,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001364837.1",
"gene_symbol": "MTHFD1",
"hgnc_id": 7432,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}