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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: 1-206909493-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206909493&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 206909493,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005449.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"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.1013C>G",
"hgvs_p": "p.Pro338Arg",
"transcript": "NM_005449.5",
"protein_id": "NP_005440.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 390,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "ENST00000367091.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.1013C>G",
"hgvs_p": "p.Pro338Arg",
"transcript": "ENST00000367091.8",
"protein_id": "ENSP00000356058.3",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 390,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "NM_005449.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.882C>G",
"hgvs_p": "p.Pro294Pro",
"transcript": "ENST00000628511.2",
"protein_id": "ENSP00000485739.1",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 306,
"cds_start": 882,
"cds_end": null,
"cds_length": 921,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.1106C>G",
"hgvs_p": "p.Pro369Arg",
"transcript": "NM_001405862.1",
"protein_id": "NP_001392791.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 421,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.1106C>G",
"hgvs_p": "p.Pro369Arg",
"transcript": "NM_001405863.1",
"protein_id": "NP_001392792.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 421,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.1013C>G",
"hgvs_p": "p.Pro338Arg",
"transcript": "NM_001405871.1",
"protein_id": "NP_001392800.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 390,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.872C>G",
"hgvs_p": "p.Pro291Arg",
"transcript": "NM_001405864.1",
"protein_id": "NP_001392793.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 343,
"cds_start": 872,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.872C>G",
"hgvs_p": "p.Pro291Arg",
"transcript": "NM_001405865.1",
"protein_id": "NP_001392794.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 343,
"cds_start": 872,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "NM_001405866.1",
"protein_id": "NP_001392795.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 342,
"cds_start": 869,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.770C>G",
"hgvs_p": "p.Pro257Arg",
"transcript": "NM_001405886.1",
"protein_id": "NP_001392815.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 309,
"cds_start": 770,
"cds_end": null,
"cds_length": 930,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.677C>G",
"hgvs_p": "p.Pro226Arg",
"transcript": "NM_001142473.2",
"protein_id": "NP_001135945.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 278,
"cds_start": 677,
"cds_end": null,
"cds_length": 837,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.677C>G",
"hgvs_p": "p.Pro226Arg",
"transcript": "NM_001405887.1",
"protein_id": "NP_001392816.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 278,
"cds_start": 677,
"cds_end": null,
"cds_length": 837,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.677C>G",
"hgvs_p": "p.Pro226Arg",
"transcript": "ENST00000442471.4",
"protein_id": "ENSP00000404136.2",
"transcript_support_level": 2,
"aa_start": 226,
"aa_end": null,
"aa_length": 278,
"cds_start": 677,
"cds_end": null,
"cds_length": 837,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.563C>G",
"hgvs_p": "p.Pro188Arg",
"transcript": "NM_001405888.1",
"protein_id": "NP_001392817.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 240,
"cds_start": 563,
"cds_end": null,
"cds_length": 723,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.545C>G",
"hgvs_p": "p.Pro182Arg",
"transcript": "NM_001405889.1",
"protein_id": "NP_001392818.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 234,
"cds_start": 545,
"cds_end": null,
"cds_length": 705,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.536C>G",
"hgvs_p": "p.Pro179Arg",
"transcript": "NM_001405890.1",
"protein_id": "NP_001392819.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 231,
"cds_start": 536,
"cds_end": null,
"cds_length": 696,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.740C>G",
"hgvs_p": "p.Pro247Arg",
"transcript": "XM_047434331.1",
"protein_id": "XP_047290287.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 299,
"cds_start": 740,
"cds_end": null,
"cds_length": 900,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.882C>G",
"hgvs_p": "p.Pro294Pro",
"transcript": "NM_001193338.2",
"protein_id": "NP_001180267.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 306,
"cds_start": 882,
"cds_end": null,
"cds_length": 921,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 2831,
"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.*532C>G",
"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.249C>G",
"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.*532C>G",
"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+232C>G",
"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+232C>G",
"hgvs_p": null,
"transcript": "NM_001405868.1",
"protein_id": "NP_001392797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
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"cdna_length": 2903,
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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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"transcript": "NM_001405891.1",
"protein_id": "NP_001392820.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
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"cdna_length": 2567,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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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+232C>G",
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"transcript": "NM_001405892.1",
"protein_id": "NP_001392821.1",
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_length": 2549,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "FCMR",
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"hgvs_c": "n.139-4346C>G",
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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.*343C>G",
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"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,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"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": 0.08340024948120117,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0716,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.038,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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.1013C>G",
"hgvs_p": "p.Pro338Arg"
}
],
"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
}