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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: 1-206909796-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206909796&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 206909796,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005449.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Ser305Trp",
"transcript": "NM_005449.5",
"protein_id": "NP_005440.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 390,
"cds_start": 914,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "ENST00000367091.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Ser305Trp",
"transcript": "ENST00000367091.8",
"protein_id": "ENSP00000356058.3",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 390,
"cds_start": 914,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "NM_005449.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.783C>G",
"hgvs_p": "p.Val261Val",
"transcript": "ENST00000628511.2",
"protein_id": "ENSP00000485739.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 306,
"cds_start": 783,
"cds_end": null,
"cds_length": 921,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Ser336Trp",
"transcript": "NM_001405862.1",
"protein_id": "NP_001392791.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 421,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Ser336Trp",
"transcript": "NM_001405863.1",
"protein_id": "NP_001392792.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 421,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Ser305Trp",
"transcript": "NM_001405871.1",
"protein_id": "NP_001392800.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 390,
"cds_start": 914,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.773C>G",
"hgvs_p": "p.Ser258Trp",
"transcript": "NM_001405864.1",
"protein_id": "NP_001392793.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 343,
"cds_start": 773,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.773C>G",
"hgvs_p": "p.Ser258Trp",
"transcript": "NM_001405865.1",
"protein_id": "NP_001392794.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 343,
"cds_start": 773,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.914C>G",
"hgvs_p": "p.Ser305Trp",
"transcript": "NM_001405867.1",
"protein_id": "NP_001392796.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 330,
"cds_start": 914,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.914C>G",
"hgvs_p": "p.Ser305Trp",
"transcript": "NM_001405868.1",
"protein_id": "NP_001392797.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 330,
"cds_start": 914,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Ser224Trp",
"transcript": "NM_001405886.1",
"protein_id": "NP_001392815.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 309,
"cds_start": 671,
"cds_end": null,
"cds_length": 930,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.578C>G",
"hgvs_p": "p.Ser193Trp",
"transcript": "NM_001142473.2",
"protein_id": "NP_001135945.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 278,
"cds_start": 578,
"cds_end": null,
"cds_length": 837,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.578C>G",
"hgvs_p": "p.Ser193Trp",
"transcript": "NM_001405887.1",
"protein_id": "NP_001392816.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 278,
"cds_start": 578,
"cds_end": null,
"cds_length": 837,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.578C>G",
"hgvs_p": "p.Ser193Trp",
"transcript": "ENST00000442471.4",
"protein_id": "ENSP00000404136.2",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 278,
"cds_start": 578,
"cds_end": null,
"cds_length": 837,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.464C>G",
"hgvs_p": "p.Ser155Trp",
"transcript": "NM_001405888.1",
"protein_id": "NP_001392817.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 240,
"cds_start": 464,
"cds_end": null,
"cds_length": 723,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.446C>G",
"hgvs_p": "p.Ser149Trp",
"transcript": "NM_001405889.1",
"protein_id": "NP_001392818.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 234,
"cds_start": 446,
"cds_end": null,
"cds_length": 705,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ser146Trp",
"transcript": "NM_001405890.1",
"protein_id": "NP_001392819.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 231,
"cds_start": 437,
"cds_end": null,
"cds_length": 696,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.578C>G",
"hgvs_p": "p.Ser193Trp",
"transcript": "NM_001405891.1",
"protein_id": "NP_001392820.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 218,
"cds_start": 578,
"cds_end": null,
"cds_length": 657,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.560C>G",
"hgvs_p": "p.Ser187Trp",
"transcript": "NM_001405892.1",
"protein_id": "NP_001392821.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 212,
"cds_start": 560,
"cds_end": null,
"cds_length": 639,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.641C>G",
"hgvs_p": "p.Ser214Trp",
"transcript": "XM_047434331.1",
"protein_id": "XP_047290287.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 299,
"cds_start": 641,
"cds_end": null,
"cds_length": 900,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.783C>G",
"hgvs_p": "p.Val261Val",
"transcript": "NM_001193338.2",
"protein_id": "NP_001180267.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 306,
"cds_start": 783,
"cds_end": null,
"cds_length": 921,
"cdna_start": 870,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "n.*433C>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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "n.150C>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,
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"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": 6,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
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"hgvs_c": "n.*433C>G",
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"transcript": "ENST00000463473.2",
"protein_id": "ENSP00000436799.1",
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"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,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.*40C>G",
"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
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.842-276C>G",
"hgvs_p": null,
"transcript": "NM_001405866.1",
"protein_id": "NP_001392795.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "n.139-4649C>G",
"hgvs_p": null,
"transcript": "ENST00000528654.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"dbsnp": "rs546416340",
"frequency_reference_population": 0.00003954719,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000162918,
"gnomad_genomes_af": 0.000236338,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07274723052978516,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.1351,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.105,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005449.5",
"gene_symbol": "FCMR",
"hgnc_id": 14315,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Ser305Trp"
}
],
"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
}