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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: 3-9689034-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9689034&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9689034,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001400518.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Tyr462Cys",
"transcript": "NM_001077525.3",
"protein_id": "NP_001070993.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 650,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296003.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077525.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Tyr462Cys",
"transcript": "ENST00000296003.9",
"protein_id": "ENSP00000296003.5",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 650,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077525.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296003.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Tyr462Cys",
"transcript": "ENST00000353332.9",
"protein_id": "ENSP00000323462.8",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 598,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353332.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Tyr462Cys",
"transcript": "ENST00000351233.9",
"protein_id": "ENSP00000334070.7",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 538,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351233.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "n.*742A>G",
"hgvs_p": null,
"transcript": "ENST00000414996.1",
"protein_id": "ENSP00000392935.1",
"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": "ENST00000414996.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "n.*742A>G",
"hgvs_p": null,
"transcript": "ENST00000414996.1",
"protein_id": "ENSP00000392935.1",
"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": "ENST00000414996.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Tyr485Cys",
"transcript": "NM_001400518.1",
"protein_id": "NP_001387447.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 673,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400518.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1382A>G",
"hgvs_p": "p.Tyr461Cys",
"transcript": "NM_001400519.1",
"protein_id": "NP_001387448.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 649,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400519.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1382A>G",
"hgvs_p": "p.Tyr461Cys",
"transcript": "ENST00000863569.1",
"protein_id": "ENSP00000533628.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 649,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863569.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Tyr437Cys",
"transcript": "NM_001400520.1",
"protein_id": "NP_001387449.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 625,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400520.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Tyr436Cys",
"transcript": "ENST00000863571.1",
"protein_id": "ENSP00000533630.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 624,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863571.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Tyr485Cys",
"transcript": "NM_001400521.1",
"protein_id": "NP_001387450.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 621,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400521.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Tyr462Cys",
"transcript": "NM_001077526.3",
"protein_id": "NP_001070994.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 598,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077526.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1382A>G",
"hgvs_p": "p.Tyr461Cys",
"transcript": "NM_001400522.1",
"protein_id": "NP_001387451.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 597,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400522.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1382A>G",
"hgvs_p": "p.Tyr461Cys",
"transcript": "ENST00000863570.1",
"protein_id": "ENSP00000533629.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 597,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863570.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1376A>G",
"hgvs_p": "p.Tyr459Cys",
"transcript": "ENST00000936842.1",
"protein_id": "ENSP00000606901.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 595,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936842.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Tyr451Cys",
"transcript": "ENST00000936843.1",
"protein_id": "ENSP00000606902.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 587,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936843.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Tyr437Cys",
"transcript": "NM_001400523.1",
"protein_id": "NP_001387452.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 573,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400523.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Tyr436Cys",
"transcript": "ENST00000958417.1",
"protein_id": "ENSP00000628476.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 572,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958417.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Tyr380Cys",
"transcript": "NM_001400524.1",
"protein_id": "NP_001387453.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 568,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400524.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Tyr380Cys",
"transcript": "ENST00000863573.1",
"protein_id": "ENSP00000533632.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 568,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863573.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Tyr379Cys",
"transcript": "ENST00000958419.1",
"protein_id": "ENSP00000628478.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 567,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1704,
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"feature": "NR_174509.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"aa_end": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_174510.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
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"hgvs_c": "n.1388A>G",
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"transcript": "NR_174511.1",
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
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"biotype": "pseudogene",
"feature": "NR_174511.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
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"hgvs_c": "n.1464A>G",
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"transcript": "XR_007095717.1",
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"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": "pseudogene",
"feature": "XR_007095717.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
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"transcript": "XR_007095718.1",
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"cds_start": null,
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"cds_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095718.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_count": 18,
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"intron_rank_end": null,
"gene_symbol": "MTMR14",
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"hgvs_c": "n.1428A>G",
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"transcript": "XR_007095719.1",
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"aa_length": null,
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"biotype": "pseudogene",
"feature": "XR_007095719.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "n.*358A>G",
"hgvs_p": null,
"transcript": "ENST00000447144.5",
"protein_id": "ENSP00000410761.1",
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"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": "ENST00000447144.5"
}
],
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"dbsnp": "rs121434510",
"frequency_reference_population": 0.000008675768,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000752639,
"gnomad_genomes_af": 0.0000197153,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25486987829208374,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.459,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.962,
"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_001400518.1",
"gene_symbol": "MTMR14",
"hgnc_id": 26190,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Tyr485Cys"
}
],
"clinvar_disease": " AUTOSOMAL DOMINANT, CENTRONUCLEAR, MODIFIER OF,MYOPATHY,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}