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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: 9-105619935-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=105619935&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 105619935,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_006731.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "NM_001079802.2",
"protein_id": "NP_001073270.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357998.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079802.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000357998.10",
"protein_id": "ENSP00000350687.6",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001079802.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357998.10"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000223528.6",
"protein_id": "ENSP00000223528.2",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223528.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*1084T>C",
"hgvs_p": null,
"transcript": "ENST00000602526.1",
"protein_id": "ENSP00000473347.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000602526.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*654T>C",
"hgvs_p": null,
"transcript": "ENST00000602661.6",
"protein_id": "ENSP00000473540.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000602661.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*1084T>C",
"hgvs_p": null,
"transcript": "ENST00000602526.1",
"protein_id": "ENSP00000473347.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000602526.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*654T>C",
"hgvs_p": null,
"transcript": "ENST00000602661.6",
"protein_id": "ENSP00000473540.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000602661.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1130T>C",
"hgvs_p": "p.Val377Ala",
"transcript": "ENST00000922141.1",
"protein_id": "ENSP00000592200.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 489,
"cds_start": 1130,
"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": "ENST00000922141.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "NM_001351496.2",
"protein_id": "NP_001338425.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351496.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "NM_006731.2",
"protein_id": "NP_006722.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006731.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000906332.1",
"protein_id": "ENSP00000576391.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906332.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000906335.1",
"protein_id": "ENSP00000576394.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906335.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000906336.1",
"protein_id": "ENSP00000576395.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906336.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000906337.1",
"protein_id": "ENSP00000576396.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906337.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000922138.1",
"protein_id": "ENSP00000592197.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922138.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000922139.1",
"protein_id": "ENSP00000592198.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922139.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000922140.1",
"protein_id": "ENSP00000592199.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922140.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000922142.1",
"protein_id": "ENSP00000592201.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922142.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000967515.1",
"protein_id": "ENSP00000637574.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967515.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Val348Ala",
"transcript": "ENST00000906334.1",
"protein_id": "ENSP00000576393.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 460,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906334.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala",
"transcript": "ENST00000676310.1",
"protein_id": "ENSP00000501585.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 450,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676310.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
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"consequences": [
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"non_coding_transcript_exon_variant"
],
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"exon_count": 10,
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"gene_symbol": "FKTN",
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"transcript": "NR_147213.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147213.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
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"gene_symbol": "FKTN",
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"biotype": "pseudogene",
"feature": "NR_147214.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 15,
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"gene_symbol": "FKTN",
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"hgvs_c": "n.*908T>C",
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"transcript": "ENST00000642537.1",
"protein_id": "ENSP00000495945.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642537.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 10,
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"gene_symbol": "FKTN",
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"hgvs_c": "n.*1169T>C",
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"transcript": "ENST00000642644.1",
"protein_id": "ENSP00000494674.1",
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"cds_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642644.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 13,
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"gene_symbol": "FKTN",
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"hgvs_c": "n.*1072T>C",
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"transcript": "ENST00000642952.1",
"protein_id": "ENSP00000493886.1",
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"feature": "ENST00000642952.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 14,
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"gene_symbol": "FKTN",
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"hgvs_c": "n.*1072T>C",
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"transcript": "ENST00000645933.1",
"protein_id": "ENSP00000495852.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645933.1"
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{
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"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 12,
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"exon_count": 14,
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"gene_symbol": "FKTN",
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"hgvs_c": "n.*654T>C",
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"transcript": "ENST00000675736.1",
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{
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"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "FKTN",
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"hgvs_c": "n.*853T>C",
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"transcript": "ENST00000676371.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676371.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.-110T>C",
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"transcript": "ENST00000644273.1",
"protein_id": "ENSP00000495009.1",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644273.1"
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],
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"dbsnp": "rs539089647",
"frequency_reference_population": 0.000008067649,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000061684,
"gnomad_genomes_af": 0.0000262598,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8102782964706421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5879999995231628,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.79,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1506,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.121,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.385232639834518,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006731.2",
"gene_symbol": "FKTN",
"hgnc_id": 3622,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Val349Ala"
}
],
"clinvar_disease": "Cardiovascular phenotype,Walker-Warburg congenital muscular dystrophy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}