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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: 1-206909503-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206909503&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 206909503,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005449.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Ile",
"transcript": "NM_005449.5",
"protein_id": "NP_005440.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 390,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "ENST00000367091.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Ile",
"transcript": "ENST00000367091.8",
"protein_id": "ENSP00000356058.3",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 390,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "NM_005449.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291His",
"transcript": "ENST00000628511.2",
"protein_id": "ENSP00000485739.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 306,
"cds_start": 872,
"cds_end": null,
"cds_length": 921,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Val366Ile",
"transcript": "NM_001405862.1",
"protein_id": "NP_001392791.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 421,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Val366Ile",
"transcript": "NM_001405863.1",
"protein_id": "NP_001392792.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 421,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Ile",
"transcript": "NM_001405871.1",
"protein_id": "NP_001392800.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 390,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "NM_001405864.1",
"protein_id": "NP_001392793.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 343,
"cds_start": 862,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "NM_001405865.1",
"protein_id": "NP_001392794.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 343,
"cds_start": 862,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Val287Ile",
"transcript": "NM_001405866.1",
"protein_id": "NP_001392795.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 342,
"cds_start": 859,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Val254Ile",
"transcript": "NM_001405886.1",
"protein_id": "NP_001392815.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 309,
"cds_start": 760,
"cds_end": null,
"cds_length": 930,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291His",
"transcript": "NM_001193338.2",
"protein_id": "NP_001180267.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 306,
"cds_start": 872,
"cds_end": null,
"cds_length": 921,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Val223Ile",
"transcript": "NM_001142473.2",
"protein_id": "NP_001135945.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 278,
"cds_start": 667,
"cds_end": null,
"cds_length": 837,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Val223Ile",
"transcript": "NM_001405887.1",
"protein_id": "NP_001392816.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 278,
"cds_start": 667,
"cds_end": null,
"cds_length": 837,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Val223Ile",
"transcript": "ENST00000442471.4",
"protein_id": "ENSP00000404136.2",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 278,
"cds_start": 667,
"cds_end": null,
"cds_length": 837,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Val185Ile",
"transcript": "NM_001405888.1",
"protein_id": "NP_001392817.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 240,
"cds_start": 553,
"cds_end": null,
"cds_length": 723,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "NM_001405889.1",
"protein_id": "NP_001392818.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 234,
"cds_start": 535,
"cds_end": null,
"cds_length": 705,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Ile",
"transcript": "NM_001405890.1",
"protein_id": "NP_001392819.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 231,
"cds_start": 526,
"cds_end": null,
"cds_length": 696,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Val244Ile",
"transcript": "XM_047434331.1",
"protein_id": "XP_047290287.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 299,
"cds_start": 730,
"cds_end": null,
"cds_length": 900,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2735,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "n.*522G>A",
"hgvs_p": null,
"transcript": "ENST00000463473.2",
"protein_id": "ENSP00000436799.1",
"transcript_support_level": 2,
"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": 1282,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "n.239G>A",
"hgvs_p": null,
"transcript": "ENST00000474041.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "n.*522G>A",
"hgvs_p": null,
"transcript": "ENST00000463473.2",
"protein_id": "ENSP00000436799.1",
"transcript_support_level": 2,
"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": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.985+222G>A",
"hgvs_p": null,
"transcript": "NM_001405867.1",
"protein_id": "NP_001392796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.985+222G>A",
"hgvs_p": null,
"transcript": "NM_001405868.1",
"protein_id": "NP_001392797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "FCMR",
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"hgvs_c": "c.649+222G>A",
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"transcript": "NM_001405891.1",
"protein_id": "NP_001392820.1",
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "FCMR",
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"hgvs_c": "c.631+222G>A",
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"transcript": "NM_001405892.1",
"protein_id": "NP_001392821.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_end": null,
"cdna_length": 2549,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "FCMR",
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"hgvs_c": "n.139-4356G>A",
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"transcript": "ENST00000528654.1",
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"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 572,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.*333G>A",
"hgvs_p": null,
"transcript": "XM_047434334.1",
"protein_id": "XP_047290290.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"dbsnp": "rs377292566",
"frequency_reference_population": 0.000004664201,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000176348,
"gnomad_genomes_af": 0.0000262691,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0846538245677948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.0979,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.483,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005449.5",
"gene_symbol": "FCMR",
"hgnc_id": 14315,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Ile"
}
],
"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
}