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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: 13-101726655-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=101726655&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 101726655,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_175929.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Lys188Lys",
"transcript": "NM_004115.4",
"protein_id": "NP_004106.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 247,
"cds_start": 564,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376143.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004115.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Lys188Lys",
"transcript": "ENST00000376143.5",
"protein_id": "ENSP00000365313.4",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 247,
"cds_start": 564,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004115.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376143.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Lys193Lys",
"transcript": "ENST00000376131.9",
"protein_id": "ENSP00000365301.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 252,
"cds_start": 579,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376131.9"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Lys193Lys",
"transcript": "NM_175929.3",
"protein_id": "NP_787125.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 252,
"cds_start": 579,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175929.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.468G>A",
"hgvs_p": "p.Lys156Lys",
"transcript": "NM_001321939.2",
"protein_id": "NP_001308868.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 215,
"cds_start": 468,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321939.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Lys154Lys",
"transcript": "NM_001321945.2",
"protein_id": "NP_001308874.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 213,
"cds_start": 462,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321945.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Lys154Lys",
"transcript": "NM_001321948.2",
"protein_id": "NP_001308877.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 213,
"cds_start": 462,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321948.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Lys154Lys",
"transcript": "NM_001379342.1",
"protein_id": "NP_001366271.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 213,
"cds_start": 462,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379342.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Lys154Lys",
"transcript": "ENST00000418923.3",
"protein_id": "ENSP00000516414.1",
"transcript_support_level": 3,
"aa_start": 154,
"aa_end": null,
"aa_length": 213,
"cds_start": 462,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418923.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Lys141Lys",
"transcript": "NM_001321947.2",
"protein_id": "NP_001308876.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 200,
"cds_start": 423,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321947.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Lys128Lys",
"transcript": "NM_001321933.1",
"protein_id": "NP_001308862.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 187,
"cds_start": 384,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321933.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Lys128Lys",
"transcript": "NM_001321938.2",
"protein_id": "NP_001308867.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 187,
"cds_start": 384,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321938.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Lys128Lys",
"transcript": "NM_001321940.1",
"protein_id": "NP_001308869.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 187,
"cds_start": 384,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321940.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Lys126Lys",
"transcript": "NM_001321941.2",
"protein_id": "NP_001308870.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 185,
"cds_start": 378,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321941.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Lys125Lys",
"transcript": "NM_001321932.1",
"protein_id": "NP_001308861.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 184,
"cds_start": 375,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321932.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Lys125Lys",
"transcript": "NM_001321936.1",
"protein_id": "NP_001308865.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 184,
"cds_start": 375,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321936.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Lys125Lys",
"transcript": "NM_001321944.1",
"protein_id": "NP_001308873.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 184,
"cds_start": 375,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321944.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "NM_001321931.1",
"protein_id": "NP_001308860.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 163,
"cds_start": 312,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321931.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "NM_001321934.1",
"protein_id": "NP_001308863.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 163,
"cds_start": 312,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321934.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "NM_001321935.1",
"protein_id": "NP_001308864.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 163,
"cds_start": 312,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321935.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "NM_001321942.1",
"protein_id": "NP_001308871.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 163,
"cds_start": 312,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321942.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "NM_001321943.1",
"protein_id": "NP_001308872.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 163,
"cds_start": 312,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321943.1"
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
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"biotype": "protein_coding",
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},
{
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"feature": "NM_001321949.1"
},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 6,
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"gene_symbol": "FGF14",
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"transcript": "ENST00000706494.1",
"protein_id": "ENSP00000516417.1",
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"feature": "ENST00000706494.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"transcript": "ENST00000706491.1",
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"feature": "ENST00000706491.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 6,
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"gene_symbol": "FGF14",
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"hgvs_c": "n.*383G>A",
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"feature": "ENST00000706492.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 6,
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"gene_symbol": "FGF14",
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"hgvs_c": "n.*478G>A",
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"transcript": "ENST00000706493.1",
"protein_id": "ENSP00000516416.1",
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"feature": "ENST00000706493.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "FGF14",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706491.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 6,
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"gene_symbol": "FGF14",
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"hgvs_c": "n.*383G>A",
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"transcript": "ENST00000706492.1",
"protein_id": "ENSP00000516415.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706492.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "n.*478G>A",
"hgvs_p": null,
"transcript": "ENST00000706493.1",
"protein_id": "ENSP00000516416.1",
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"aa_start": null,
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"cds_end": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706493.1"
}
],
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"dbsnp": "rs556509693",
"frequency_reference_population": 0.00006879591,
"hom_count_reference_population": 1,
"allele_count_reference_population": 111,
"gnomad_exomes_af": 0.0000684328,
"gnomad_genomes_af": 0.0000722828,
"gnomad_exomes_ac": 100,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.526,
"phylop100way_prediction": "Uncertain_significance",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_175929.3",
"gene_symbol": "FGF14",
"hgnc_id": 3671,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Lys193Lys"
}
],
"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
}