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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: 19-34221682-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=34221682&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 34221682,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001384420.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1312C>A",
"hgvs_p": "p.Arg438Ser",
"transcript": "NM_015578.4",
"protein_id": "NP_056393.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 463,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000544216.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015578.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1312C>A",
"hgvs_p": "p.Arg438Ser",
"transcript": "ENST00000544216.8",
"protein_id": "ENSP00000446271.2",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 463,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015578.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544216.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1312C>A",
"hgvs_p": "p.Arg438Ser",
"transcript": "ENST00000433627.9",
"protein_id": "ENSP00000413964.3",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 463,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433627.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1312C>A",
"hgvs_p": "p.Arg438Ser",
"transcript": "NM_001384420.1",
"protein_id": "NP_001371349.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 468,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384420.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1312C>A",
"hgvs_p": "p.Arg438Ser",
"transcript": "NM_001114093.3",
"protein_id": "NP_001107565.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 463,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114093.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1309C>A",
"hgvs_p": "p.Arg437Ser",
"transcript": "ENST00000906057.1",
"protein_id": "ENSP00000576116.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 462,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906057.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Arg436Ser",
"transcript": "NM_001384421.1",
"protein_id": "NP_001371350.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 461,
"cds_start": 1306,
"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_001384421.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Arg436Ser",
"transcript": "ENST00000914870.1",
"protein_id": "ENSP00000584929.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 461,
"cds_start": 1306,
"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": "ENST00000914870.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1279C>A",
"hgvs_p": "p.Arg427Ser",
"transcript": "NM_001384422.1",
"protein_id": "NP_001371351.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 452,
"cds_start": 1279,
"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": "NM_001384422.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1279C>A",
"hgvs_p": "p.Arg427Ser",
"transcript": "ENST00000906059.1",
"protein_id": "ENSP00000576118.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 452,
"cds_start": 1279,
"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": "ENST00000906059.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Ser",
"transcript": "ENST00000914871.1",
"protein_id": "ENSP00000584930.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 432,
"cds_start": 1219,
"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": "ENST00000914871.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1189C>A",
"hgvs_p": "p.Arg397Ser",
"transcript": "NM_001384423.1",
"protein_id": "NP_001371352.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 422,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384423.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1189C>A",
"hgvs_p": "p.Arg397Ser",
"transcript": "ENST00000540746.6",
"protein_id": "ENSP00000446451.1",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 422,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540746.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1189C>A",
"hgvs_p": "p.Arg397Ser",
"transcript": "ENST00000906060.1",
"protein_id": "ENSP00000576119.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 422,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906060.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Arg379Ser",
"transcript": "NM_001384424.1",
"protein_id": "NP_001371353.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 409,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384424.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Arg379Ser",
"transcript": "NM_001384425.1",
"protein_id": "NP_001371354.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 404,
"cds_start": 1135,
"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": "NM_001384425.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Arg379Ser",
"transcript": "NM_001384426.1",
"protein_id": "NP_001371355.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 404,
"cds_start": 1135,
"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": "NM_001384426.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1132C>A",
"hgvs_p": "p.Arg378Ser",
"transcript": "ENST00000906061.1",
"protein_id": "ENSP00000576120.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 403,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906061.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1129C>A",
"hgvs_p": "p.Arg377Ser",
"transcript": "NM_001384427.1",
"protein_id": "NP_001371356.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 402,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384427.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1129C>A",
"hgvs_p": "p.Arg377Ser",
"transcript": "NM_001384428.1",
"protein_id": "NP_001371357.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 402,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384428.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1129C>A",
"hgvs_p": "p.Arg377Ser",
"transcript": "ENST00000906056.1",
"protein_id": "ENSP00000576115.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 402,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906056.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.1126C>A",
"hgvs_p": "p.Arg376Ser",
"transcript": "ENST00000914869.1",
"protein_id": "ENSP00000584928.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 401,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1206,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
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"hgvs_c": "n.1447C>A",
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"transcript": "NR_169263.1",
"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_169263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "n.1517C>A",
"hgvs_p": null,
"transcript": "NR_169264.1",
"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_169264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "n.1447C>A",
"hgvs_p": null,
"transcript": "NR_169265.1",
"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_169265.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "n.1471C>A",
"hgvs_p": null,
"transcript": "NR_169266.1",
"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_169266.1"
}
],
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"dbsnp": "rs149275422",
"frequency_reference_population": 0.00010223073,
"hom_count_reference_population": 0,
"allele_count_reference_population": 165,
"gnomad_exomes_af": 0.0000985032,
"gnomad_genomes_af": 0.000138054,
"gnomad_exomes_ac": 144,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16604819893836975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.8794,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.535,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001384420.1",
"gene_symbol": "LSM14A",
"hgnc_id": 24489,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1312C>A",
"hgvs_p": "p.Arg438Ser"
}
],
"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
}