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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-115940745-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=115940745&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 115940745,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012252.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn",
"transcript": "NM_012252.4",
"protein_id": "NP_036384.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 347,
"cds_start": 850,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265440.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012252.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn",
"transcript": "ENST00000265440.12",
"protein_id": "ENSP00000265440.7",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 347,
"cds_start": 850,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012252.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265440.12"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Asp255Asn",
"transcript": "ENST00000320239.11",
"protein_id": "ENSP00000318676.7",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 318,
"cds_start": 763,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320239.11"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn",
"transcript": "ENST00000871199.1",
"protein_id": "ENSP00000541258.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 347,
"cds_start": 850,
"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": "ENST00000871199.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn",
"transcript": "ENST00000952248.1",
"protein_id": "ENSP00000622307.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 347,
"cds_start": 850,
"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": "ENST00000952248.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Asp265Asn",
"transcript": "ENST00000871200.1",
"protein_id": "ENSP00000541259.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 328,
"cds_start": 793,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871200.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Asp255Asn",
"transcript": "NM_001018058.3",
"protein_id": "NP_001018068.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 318,
"cds_start": 763,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018058.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Asp255Asn",
"transcript": "ENST00000871198.1",
"protein_id": "ENSP00000541257.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 318,
"cds_start": 763,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871198.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Asp217Asn",
"transcript": "NM_001244583.2",
"protein_id": "NP_001231512.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 280,
"cds_start": 649,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244583.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Asp217Asn",
"transcript": "ENST00000457268.5",
"protein_id": "ENSP00000387650.1",
"transcript_support_level": 3,
"aa_start": 217,
"aa_end": null,
"aa_length": 280,
"cds_start": 649,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457268.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Asp374Asn",
"transcript": "XM_011515963.2",
"protein_id": "XP_011514265.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 437,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515963.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Asp374Asn",
"transcript": "XM_011515964.3",
"protein_id": "XP_011514266.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 437,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515964.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Asp374Asn",
"transcript": "XM_011515965.3",
"protein_id": "XP_011514267.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 437,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515965.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Asp374Asn",
"transcript": "XM_047420050.1",
"protein_id": "XP_047276006.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 437,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420050.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Asp374Asn",
"transcript": "XM_047420051.1",
"protein_id": "XP_047276007.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 437,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420051.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Asp374Asn",
"transcript": "XM_047420052.1",
"protein_id": "XP_047276008.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 437,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420052.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "XM_011515969.2",
"protein_id": "XP_011514271.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 418,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515969.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Asp345Asn",
"transcript": "XM_011515970.2",
"protein_id": "XP_011514272.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 408,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515970.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Asp345Asn",
"transcript": "XM_047420053.1",
"protein_id": "XP_047276009.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 408,
"cds_start": 1033,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420053.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Asp345Asn",
"transcript": "XM_047420054.1",
"protein_id": "XP_047276010.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 408,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420054.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Asp316Asn",
"transcript": "XM_047420055.1",
"protein_id": "XP_047276011.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 379,
"cds_start": 946,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420055.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn",
"transcript": "XM_017011875.2",
"protein_id": "XP_016867364.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 347,
"cds_start": 850,
"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": "XM_017011875.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 6,
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},
{
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"hgvs_c": "c.526G>A",
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"biotype": "protein_coding",
"feature": "XM_017011877.2"
},
{
"aa_ref": "D",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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"gene_symbol": "TFEC",
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"biotype": "protein_coding",
"feature": "XM_017011878.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 6,
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"gene_symbol": "TFEC",
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"hgvs_c": "c.*1130G>A",
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"transcript": "ENST00000393485.5",
"protein_id": "ENSP00000377125.1",
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"biotype": "protein_coding",
"feature": "ENST00000393485.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"gene_symbol": "TFEC",
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"hgvs_c": "c.*1130G>A",
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"transcript": "XM_047420056.1",
"protein_id": "XP_047276012.1",
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"aa_end": null,
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"biotype": "protein_coding",
"feature": "XM_047420056.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 11,
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"gene_symbol": "TFEC",
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"hgvs_c": "n.1295G>A",
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"transcript": "XR_007059992.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "TFEC",
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"hgvs_c": "n.170-301G>A",
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"transcript": "ENST00000462828.1",
"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": "ENST00000462828.1"
}
],
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"dbsnp": null,
"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": 0.33500251173973083,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.234,
"revel_prediction": "Benign",
"alphamissense_score": 0.2659,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.563,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012252.4",
"gene_symbol": "TFEC",
"hgnc_id": 11754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn"
}
],
"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
}