← Back to variant description
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: 7-44073698-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44073698&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44073698,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001362683.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"transcript": "NM_013284.4",
"protein_id": "NP_037416.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 494,
"cds_start": 1325,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"transcript": "ENST00000242248.10",
"protein_id": "ENSP00000242248.5",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 494,
"cds_start": 1325,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Gln",
"transcript": "ENST00000395831.7",
"protein_id": "ENSP00000379174.3",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 508,
"cds_start": 1085,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"transcript": "ENST00000335195.10",
"protein_id": "ENSP00000335141.6",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 457,
"cds_start": 1214,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*1084G>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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*1084G>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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"transcript": "NM_001362683.2",
"protein_id": "NP_001349612.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 588,
"cds_start": 1325,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1391G>A",
"hgvs_p": "p.Arg464Gln",
"transcript": "ENST00000881076.1",
"protein_id": "ENSP00000551135.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 516,
"cds_start": 1391,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1388G>A",
"hgvs_p": "p.Arg463Gln",
"transcript": "ENST00000965031.1",
"protein_id": "ENSP00000635090.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 515,
"cds_start": 1388,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Gln",
"transcript": "NM_001284330.2",
"protein_id": "NP_001271259.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 508,
"cds_start": 1085,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"transcript": "ENST00000881079.1",
"protein_id": "ENSP00000551138.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 493,
"cds_start": 1325,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437Gln",
"transcript": "ENST00000881075.1",
"protein_id": "ENSP00000551134.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 489,
"cds_start": 1310,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437Gln",
"transcript": "ENST00000881077.1",
"protein_id": "ENSP00000551136.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 489,
"cds_start": 1310,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1304G>A",
"hgvs_p": "p.Arg435Gln",
"transcript": "ENST00000935515.1",
"protein_id": "ENSP00000605574.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 487,
"cds_start": 1304,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1304G>A",
"hgvs_p": "p.Arg435Gln",
"transcript": "ENST00000935514.1",
"protein_id": "ENSP00000605573.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 486,
"cds_start": 1304,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431Gln",
"transcript": "ENST00000965040.1",
"protein_id": "ENSP00000635099.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 483,
"cds_start": 1292,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "ENST00000935513.1",
"protein_id": "ENSP00000605572.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 475,
"cds_start": 1268,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419Gln",
"transcript": "ENST00000881073.1",
"protein_id": "ENSP00000551132.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 471,
"cds_start": 1256,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"transcript": "NM_001284331.2",
"protein_id": "NP_001271260.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 457,
"cds_start": 1214,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"transcript": "ENST00000965039.1",
"protein_id": "ENSP00000635098.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 457,
"cds_start": 1214,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Arg401Gln",
"transcript": "ENST00000881071.1",
"protein_id": "ENSP00000551130.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 453,
"cds_start": 1202,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400Gln",
"transcript": "ENST00000881070.1",
"protein_id": "ENSP00000551129.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 452,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881070.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399Gln",
"transcript": "ENST00000965033.1",
"protein_id": "ENSP00000635092.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 451,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965033.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394Gln",
"transcript": "ENST00000881068.1",
"protein_id": "ENSP00000551127.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 446,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881068.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392Gln",
"transcript": "ENST00000881066.1",
"protein_id": "ENSP00000551125.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 444,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881066.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392Gln",
"transcript": "ENST00000881078.1",
"protein_id": "ENSP00000551137.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 443,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881078.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385Gln",
"transcript": "ENST00000881072.1",
"protein_id": "ENSP00000551131.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 437,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881072.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380Gln",
"transcript": "ENST00000881067.1",
"protein_id": "ENSP00000551126.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 432,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881067.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Gln",
"transcript": "ENST00000965029.1",
"protein_id": "ENSP00000635088.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 414,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965029.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Gln",
"transcript": "ENST00000965038.1",
"protein_id": "ENSP00000635097.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 413,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965038.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "ENST00000965030.1",
"protein_id": "ENSP00000635089.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 405,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965030.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Gln",
"transcript": "ENST00000881065.1",
"protein_id": "ENSP00000551124.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 404,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881065.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Gln",
"transcript": "ENST00000965032.1",
"protein_id": "ENSP00000635091.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 404,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965032.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348Gln",
"transcript": "ENST00000965037.1",
"protein_id": "ENSP00000635096.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 400,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965037.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341Gln",
"transcript": "ENST00000935516.1",
"protein_id": "ENSP00000605575.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 393,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935516.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323Gln",
"transcript": "ENST00000881069.1",
"protein_id": "ENSP00000551128.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 375,
"cds_start": 968,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881069.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305Gln",
"transcript": "ENST00000965041.1",
"protein_id": "ENSP00000635100.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 357,
"cds_start": 914,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965041.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.905G>A",
"hgvs_p": "p.Arg302Gln",
"transcript": "ENST00000881074.1",
"protein_id": "ENSP00000551133.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 354,
"cds_start": 905,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881074.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000881064.1",
"protein_id": "ENSP00000551123.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 324,
"cds_start": 815,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881064.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263Gln",
"transcript": "ENST00000965036.1",
"protein_id": "ENSP00000635095.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 315,
"cds_start": 788,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965036.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251Gln",
"transcript": "ENST00000965034.1",
"protein_id": "ENSP00000635093.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 303,
"cds_start": 752,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965034.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Gln",
"transcript": "ENST00000965035.1",
"protein_id": "ENSP00000635094.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 285,
"cds_start": 698,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*567G>A",
"hgvs_p": null,
"transcript": "ENST00000430942.5",
"protein_id": "ENSP00000396571.1",
"transcript_support_level": 2,
"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": "ENST00000430942.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*630G>A",
"hgvs_p": null,
"transcript": "ENST00000435068.5",
"protein_id": "ENSP00000388230.1",
"transcript_support_level": 2,
"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": "ENST00000435068.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.347G>A",
"hgvs_p": null,
"transcript": "ENST00000467607.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000467607.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.1388G>A",
"hgvs_p": null,
"transcript": "NR_104299.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_104299.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.1404G>A",
"hgvs_p": null,
"transcript": "NR_156112.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_156112.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.1314G>A",
"hgvs_p": null,
"transcript": "NR_156113.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_156113.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*567G>A",
"hgvs_p": null,
"transcript": "ENST00000430942.5",
"protein_id": "ENSP00000396571.1",
"transcript_support_level": 2,
"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": "ENST00000430942.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*630G>A",
"hgvs_p": null,
"transcript": "ENST00000435068.5",
"protein_id": "ENSP00000388230.1",
"transcript_support_level": 2,
"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": "ENST00000435068.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*591G>A",
"hgvs_p": null,
"transcript": "ENST00000434229.5",
"protein_id": "ENSP00000395043.1",
"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": "ENST00000434229.5"
}
],
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"dbsnp": "rs557968202",
"frequency_reference_population": 0.000009292656,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000820897,
"gnomad_genomes_af": 0.0000196899,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34903836250305176,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3499999940395355,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.1629,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.004,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.35,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001362683.2",
"gene_symbol": "POLM",
"hgnc_id": 9185,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}