← 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: 4-2931441-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2931441&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2931441,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001410703.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC75A1",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "NM_001146069.2",
"protein_id": "NP_001139541.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355443.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146069.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000355443.9",
"protein_id": "ENSP00000347619.4",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146069.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355443.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000329687.8",
"protein_id": "ENSP00000332646.4",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329687.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1192T>C",
"hgvs_p": "p.Phe398Leu",
"transcript": "ENST00000866678.1",
"protein_id": "ENSP00000536737.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 503,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866678.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC75A1",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "NM_001410703.1",
"protein_id": "NP_001397632.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 480,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410703.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000514800.5",
"protein_id": "ENSP00000426907.1",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 480,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514800.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1114T>C",
"hgvs_p": "p.Phe372Leu",
"transcript": "ENST00000967828.1",
"protein_id": "ENSP00000637887.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 477,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967828.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC75A1",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "NM_001120.5",
"protein_id": "NP_001111.3",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001120.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000866676.1",
"protein_id": "ENSP00000536735.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866676.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000866679.1",
"protein_id": "ENSP00000536738.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866679.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000866682.1",
"protein_id": "ENSP00000536741.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866682.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000866683.1",
"protein_id": "ENSP00000536742.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866683.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000866684.1",
"protein_id": "ENSP00000536743.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866684.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000866685.1",
"protein_id": "ENSP00000536744.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866685.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000932269.1",
"protein_id": "ENSP00000602328.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932269.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000967825.1",
"protein_id": "ENSP00000637884.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 455,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967825.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000932268.1",
"protein_id": "ENSP00000602327.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 452,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932268.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1024T>C",
"hgvs_p": "p.Phe342Leu",
"transcript": "ENST00000967827.1",
"protein_id": "ENSP00000637886.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 447,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967827.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu",
"transcript": "ENST00000967830.1",
"protein_id": "ENSP00000637889.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 409,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967830.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.898T>C",
"hgvs_p": "p.Phe300Leu",
"transcript": "ENST00000866681.1",
"protein_id": "ENSP00000536740.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 405,
"cds_start": 898,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866681.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.889T>C",
"hgvs_p": "p.Phe297Leu",
"transcript": "ENST00000866680.1",
"protein_id": "ENSP00000536739.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 402,
"cds_start": 889,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866680.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Phe296Leu",
"transcript": "ENST00000866677.1",
"protein_id": "ENSP00000536736.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 401,
"cds_start": 886,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866677.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.724T>C",
"hgvs_p": "p.Phe242Leu",
"transcript": "ENST00000967826.1",
"protein_id": "ENSP00000637885.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 347,
"cds_start": 724,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967826.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Phe186Leu",
"transcript": "ENST00000866686.1",
"protein_id": "ENSP00000536745.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 291,
"cds_start": 556,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866686.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC75A1",
"gene_hgnc_id": 16894,
"hgvs_c": "c.939T>C",
"hgvs_p": "p.Pro313Pro",
"transcript": "NM_001363679.2",
"protein_id": "NP_001350608.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 366,
"cds_start": 939,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363679.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.939T>C",
"hgvs_p": "p.Pro313Pro",
"transcript": "ENST00000507555.1",
"protein_id": "ENSP00000423402.1",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 366,
"cds_start": 939,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507555.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC75A1",
"gene_hgnc_id": 16894,
"hgvs_c": "c.939T>C",
"hgvs_p": "p.Pro313Pro",
"transcript": "XM_047449490.1",
"protein_id": "XP_047305446.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 366,
"cds_start": 939,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449490.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.1023+114T>C",
"hgvs_p": null,
"transcript": "ENST00000508221.5",
"protein_id": "ENSP00000425757.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508221.5"
},
{
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "c.803-167T>C",
"hgvs_p": null,
"transcript": "ENST00000967829.1",
"protein_id": "ENSP00000637888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967829.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "n.*216T>C",
"hgvs_p": null,
"transcript": "ENST00000503596.5",
"protein_id": "ENSP00000423509.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000503596.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "n.*645T>C",
"hgvs_p": null,
"transcript": "ENST00000507272.5",
"protein_id": "ENSP00000427637.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000507272.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "n.496T>C",
"hgvs_p": null,
"transcript": "ENST00000508276.1",
"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": "retained_intron",
"feature": "ENST00000508276.1"
},
{
"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": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "n.615T>C",
"hgvs_p": null,
"transcript": "ENST00000512781.5",
"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": "retained_intron",
"feature": "ENST00000512781.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "n.357T>C",
"hgvs_p": null,
"transcript": "ENST00000514031.5",
"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": "ENST00000514031.5"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "n.*216T>C",
"hgvs_p": null,
"transcript": "ENST00000503596.5",
"protein_id": "ENSP00000423509.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000503596.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD10",
"gene_hgnc_id": 16894,
"hgvs_c": "n.*645T>C",
"hgvs_p": null,
"transcript": "ENST00000507272.5",
"protein_id": "ENSP00000427637.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000507272.5"
}
],
"gene_symbol": "SLC75A1",
"gene_hgnc_id": 16894,
"dbsnp": null,
"frequency_reference_population": 7.0908106e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.09081e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7760854959487915,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.3,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9132,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.781,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410703.1",
"gene_symbol": "SLC75A1",
"hgnc_id": 16894,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000329687.8",
"gene_symbol": "MFSD10",
"hgnc_id": 16894,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Phe350Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}