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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: 7-115956763-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=115956763&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 115956763,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000265440.12",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Gly100Ser",
"transcript": "NM_012252.4",
"protein_id": "NP_036384.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 347,
"cds_start": 298,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": "ENST00000265440.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Gly100Ser",
"transcript": "ENST00000265440.12",
"protein_id": "ENSP00000265440.7",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 347,
"cds_start": 298,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": "NM_012252.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000320239.11",
"protein_id": "ENSP00000318676.7",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 318,
"cds_start": 211,
"cds_end": null,
"cds_length": 957,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 6605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "n.160G>A",
"hgvs_p": null,
"transcript": "ENST00000497829.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "NM_001018058.3",
"protein_id": "NP_001018068.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 318,
"cds_start": 211,
"cds_end": null,
"cds_length": 957,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "ENST00000484212.5",
"protein_id": "ENSP00000417432.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 316,
"cds_start": 568,
"cds_end": null,
"cds_length": 951,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Gly33Ser",
"transcript": "NM_001244583.2",
"protein_id": "NP_001231512.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 280,
"cds_start": 97,
"cds_end": null,
"cds_length": 843,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 6301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Gly33Ser",
"transcript": "ENST00000457268.5",
"protein_id": "ENSP00000387650.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 280,
"cds_start": 97,
"cds_end": null,
"cds_length": 843,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000393485.5",
"protein_id": "ENSP00000377125.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 197,
"cds_start": 211,
"cds_end": null,
"cds_length": 594,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "XM_011515963.2",
"protein_id": "XP_011514265.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 437,
"cds_start": 568,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 6888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "XM_011515964.3",
"protein_id": "XP_011514266.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 437,
"cds_start": 568,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 6917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "XM_011515965.3",
"protein_id": "XP_011514267.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 437,
"cds_start": 568,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "XM_047420050.1",
"protein_id": "XP_047276006.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 437,
"cds_start": 568,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "XM_047420051.1",
"protein_id": "XP_047276007.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 437,
"cds_start": 568,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "XM_047420052.1",
"protein_id": "XP_047276008.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 437,
"cds_start": 568,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "XM_011515969.2",
"protein_id": "XP_011514271.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 418,
"cds_start": 568,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 6831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "XM_011515970.2",
"protein_id": "XP_011514272.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 408,
"cds_start": 481,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 6801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "XM_047420053.1",
"protein_id": "XP_047276009.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 408,
"cds_start": 481,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "XM_047420054.1",
"protein_id": "XP_047276010.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 408,
"cds_start": 481,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 7111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Gly132Ser",
"transcript": "XM_047420055.1",
"protein_id": "XP_047276011.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 379,
"cds_start": 394,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 6817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Gly100Ser",
"transcript": "XM_017011875.2",
"protein_id": "XP_016867364.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 347,
"cds_start": 298,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 6816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "XM_047420056.1",
"protein_id": "XP_047276012.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 287,
"cds_start": 481,
"cds_end": null,
"cds_length": 864,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.34G>A",
"hgvs_p": "p.Gly12Ser",
"transcript": "XM_017011876.3",
"protein_id": "XP_016867365.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 259,
"cds_start": 34,
"cds_end": null,
"cds_length": 780,
"cdna_start": 249,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 11,
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"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
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"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 6,
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"gene_symbol": "TFEC",
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"hgvs_c": "c.-27G>A",
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"transcript": "XM_017011877.2",
"protein_id": "XP_016867366.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 6,
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"gene_symbol": "TFEC",
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"hgvs_c": "c.-27G>A",
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"transcript": "XM_017011878.3",
"protein_id": "XP_016867367.1",
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"cds_start": -4,
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"feature": null
}
],
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"dbsnp": "rs35170691",
"frequency_reference_population": 0.0028713848,
"hom_count_reference_population": 100,
"allele_count_reference_population": 4583,
"gnomad_exomes_af": 0.00157112,
"gnomad_genomes_af": 0.0152339,
"gnomad_exomes_ac": 2269,
"gnomad_genomes_ac": 2314,
"gnomad_exomes_homalt": 44,
"gnomad_genomes_homalt": 56,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019370317459106445,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0663,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.861,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265440.12",
"gene_symbol": "TFEC",
"hgnc_id": 11754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Gly100Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}