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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: 17-74864234-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74864234&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74864234,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001258012.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"transcript": "NM_024417.5",
"protein_id": "NP_077728.3",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 491,
"cds_start": 916,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293195.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024417.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"transcript": "ENST00000293195.10",
"protein_id": "ENSP00000293195.5",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 491,
"cds_start": 916,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024417.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293195.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312Cys",
"transcript": "ENST00000581530.5",
"protein_id": "ENSP00000462972.1",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 497,
"cds_start": 934,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581530.5"
},
{
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.1604C>T",
"hgvs_p": null,
"transcript": "ENST00000578473.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000578473.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Cys",
"transcript": "ENST00000933581.1",
"protein_id": "ENSP00000603640.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 540,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933581.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys",
"transcript": "NM_001258012.4",
"protein_id": "NP_001244941.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 534,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258012.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys",
"transcript": "ENST00000442102.6",
"protein_id": "ENSP00000416515.2",
"transcript_support_level": 2,
"aa_start": 349,
"aa_end": null,
"aa_length": 534,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442102.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Cys",
"transcript": "ENST00000946597.1",
"protein_id": "ENSP00000616656.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 523,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946597.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1009C>T",
"hgvs_p": "p.Arg337Cys",
"transcript": "NM_001258013.4",
"protein_id": "NP_001244942.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 522,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258013.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1009C>T",
"hgvs_p": "p.Arg337Cys",
"transcript": "ENST00000413947.6",
"protein_id": "ENSP00000408595.2",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 522,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413947.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Cys",
"transcript": "ENST00000946595.1",
"protein_id": "ENSP00000616654.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 519,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946595.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332Cys",
"transcript": "ENST00000946589.1",
"protein_id": "ENSP00000616648.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 517,
"cds_start": 994,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946589.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322Cys",
"transcript": "ENST00000946592.1",
"protein_id": "ENSP00000616651.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 507,
"cds_start": 964,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946592.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"transcript": "ENST00000933578.1",
"protein_id": "ENSP00000603637.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 501,
"cds_start": 916,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933578.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"transcript": "ENST00000868980.1",
"protein_id": "ENSP00000539039.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 498,
"cds_start": 937,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868980.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312Cys",
"transcript": "NM_004110.6",
"protein_id": "NP_004101.3",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 497,
"cds_start": 934,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004110.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Arg308Cys",
"transcript": "ENST00000946596.1",
"protein_id": "ENSP00000616655.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 493,
"cds_start": 922,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946596.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Arg307Cys",
"transcript": "ENST00000868974.1",
"protein_id": "ENSP00000539033.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 492,
"cds_start": 919,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868974.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "ENST00000868979.1",
"protein_id": "ENSP00000539038.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 490,
"cds_start": 913,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868979.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "ENST00000933576.1",
"protein_id": "ENSP00000603635.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 490,
"cds_start": 913,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933576.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304Cys",
"transcript": "ENST00000868978.1",
"protein_id": "ENSP00000539037.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 489,
"cds_start": 910,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868978.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.Arg303Cys",
"transcript": "ENST00000933579.1",
"protein_id": "ENSP00000603638.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 488,
"cds_start": 907,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933579.1"
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*875C>T",
"hgvs_p": null,
"transcript": "ENST00000577509.5",
"protein_id": "ENSP00000462083.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000577509.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1028C>T",
"hgvs_p": null,
"transcript": "ENST00000579482.5",
"protein_id": "ENSP00000461993.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000579482.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*553C>T",
"hgvs_p": null,
"transcript": "ENST00000583881.5",
"protein_id": "ENSP00000464670.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000583881.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*749C>T",
"hgvs_p": null,
"transcript": "ENST00000582710.5",
"protein_id": "ENSP00000462884.1",
"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": "ENST00000582710.5"
}
],
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"dbsnp": "rs752143061",
"frequency_reference_population": 0.00004105785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 66,
"gnomad_exomes_af": 0.0000405444,
"gnomad_genomes_af": 0.0000459637,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7635560035705566,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.1296,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.81,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001258012.4",
"gene_symbol": "FDXR",
"hgnc_id": 3642,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys"
}
],
"clinvar_disease": "Auditory neuropathy-optic atrophy syndrome,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:4",
"phenotype_combined": "Auditory neuropathy-optic atrophy syndrome|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}