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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: 7-44073827-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44073827&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44073827,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001362683.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Val424Ile",
"transcript": "NM_013284.4",
"protein_id": "NP_037416.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 494,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242248.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013284.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Val424Ile",
"transcript": "ENST00000242248.10",
"protein_id": "ENSP00000242248.5",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 494,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013284.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242248.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Ile",
"transcript": "ENST00000395831.7",
"protein_id": "ENSP00000379174.3",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 508,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395831.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Val387Ile",
"transcript": "ENST00000335195.10",
"protein_id": "ENSP00000335141.6",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 457,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335195.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*1029G>A",
"hgvs_p": null,
"transcript": "ENST00000458246.5",
"protein_id": "ENSP00000414025.1",
"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": "ENST00000458246.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*1029G>A",
"hgvs_p": null,
"transcript": "ENST00000458246.5",
"protein_id": "ENSP00000414025.1",
"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": "ENST00000458246.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Val424Ile",
"transcript": "NM_001362683.2",
"protein_id": "NP_001349612.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 588,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362683.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Val446Ile",
"transcript": "ENST00000881076.1",
"protein_id": "ENSP00000551135.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 516,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881076.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Val445Ile",
"transcript": "ENST00000965031.1",
"protein_id": "ENSP00000635090.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 515,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965031.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Ile",
"transcript": "NM_001284330.2",
"protein_id": "NP_001271259.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 508,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284330.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Val424Ile",
"transcript": "ENST00000881079.1",
"protein_id": "ENSP00000551138.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 493,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881079.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Val419Ile",
"transcript": "ENST00000881075.1",
"protein_id": "ENSP00000551134.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 489,
"cds_start": 1255,
"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": "ENST00000881075.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Val419Ile",
"transcript": "ENST00000881077.1",
"protein_id": "ENSP00000551136.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 489,
"cds_start": 1255,
"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": "ENST00000881077.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Val417Ile",
"transcript": "ENST00000935515.1",
"protein_id": "ENSP00000605574.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 487,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935515.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Val417Ile",
"transcript": "ENST00000935514.1",
"protein_id": "ENSP00000605573.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 486,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935514.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Val413Ile",
"transcript": "ENST00000965040.1",
"protein_id": "ENSP00000635099.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 483,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965040.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"transcript": "ENST00000935513.1",
"protein_id": "ENSP00000605572.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 475,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935513.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Val401Ile",
"transcript": "ENST00000881073.1",
"protein_id": "ENSP00000551132.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 471,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881073.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Val387Ile",
"transcript": "NM_001284331.2",
"protein_id": "NP_001271260.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 457,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284331.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Val387Ile",
"transcript": "ENST00000965039.1",
"protein_id": "ENSP00000635098.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 457,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965039.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "ENST00000881071.1",
"protein_id": "ENSP00000551130.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 453,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881071.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "ENST00000881070.1",
"protein_id": "ENSP00000551129.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 452,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000467607.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
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"transcript": "NR_104299.2",
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"biotype": "pseudogene",
"feature": "NR_104299.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
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"hgvs_c": "n.1349G>A",
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"transcript": "NR_156112.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156112.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "POLM",
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"hgvs_c": "n.1259G>A",
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"transcript": "NR_156113.2",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156113.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 11,
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"gene_symbol": "POLM",
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"hgvs_c": "n.*512G>A",
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"transcript": "ENST00000430942.5",
"protein_id": "ENSP00000396571.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430942.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 7,
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"gene_symbol": "POLM",
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"hgvs_c": "n.*575G>A",
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"transcript": "ENST00000435068.5",
"protein_id": "ENSP00000388230.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000435068.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "POLM",
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"hgvs_c": "n.*462G>A",
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"transcript": "ENST00000434229.5",
"protein_id": "ENSP00000395043.1",
"transcript_support_level": 1,
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"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434229.5"
}
],
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"dbsnp": "rs1343813704",
"frequency_reference_population": 0.0000061952574,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000478839,
"gnomad_genomes_af": 0.0000197018,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04239541292190552,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0577,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.973,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001362683.2",
"gene_symbol": "POLM",
"hgnc_id": 9185,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Val424Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}