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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: 1-46261301-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46261301&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46261301,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003579.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "NM_003579.4",
"protein_id": "NP_003570.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 747,
"cds_start": 807,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371975.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003579.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000371975.9",
"protein_id": "ENSP00000361043.4",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 747,
"cds_start": 807,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003579.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371975.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000932547.1",
"protein_id": "ENSP00000602606.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 757,
"cds_start": 807,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932547.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "NM_001142548.2",
"protein_id": "NP_001136020.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 747,
"cds_start": 807,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142548.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000442598.5",
"protein_id": "ENSP00000396113.1",
"transcript_support_level": 2,
"aa_start": 269,
"aa_end": null,
"aa_length": 747,
"cds_start": 807,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442598.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000671528.1",
"protein_id": "ENSP00000499652.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 747,
"cds_start": 807,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671528.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000932539.1",
"protein_id": "ENSP00000602598.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 747,
"cds_start": 807,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932539.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000932541.1",
"protein_id": "ENSP00000602600.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 747,
"cds_start": 807,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932541.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000932542.1",
"protein_id": "ENSP00000602601.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 720,
"cds_start": 807,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932542.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Pro225Pro",
"transcript": "ENST00000932540.1",
"protein_id": "ENSP00000602599.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 703,
"cds_start": 675,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932540.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Pro225Pro",
"transcript": "ENST00000932544.1",
"protein_id": "ENSP00000602603.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 703,
"cds_start": 675,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932544.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000932546.1",
"protein_id": "ENSP00000602605.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 687,
"cds_start": 807,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932546.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Pro104Pro",
"transcript": "ENST00000932545.1",
"protein_id": "ENSP00000602604.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 582,
"cds_start": 312,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932545.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.267C>A",
"hgvs_p": "p.Pro89Pro",
"transcript": "NM_001370766.1",
"protein_id": "NP_001357695.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 567,
"cds_start": 267,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370766.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Pro104Pro",
"transcript": "ENST00000932543.1",
"protein_id": "ENSP00000602602.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 522,
"cds_start": 312,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932543.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.531C>A",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000472889.2",
"protein_id": "ENSP00000477729.1",
"transcript_support_level": 4,
"aa_start": 177,
"aa_end": null,
"aa_length": 254,
"cds_start": 531,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472889.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "c.33C>A",
"hgvs_p": "p.Pro11Pro",
"transcript": "ENST00000463715.5",
"protein_id": "ENSP00000480207.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 29,
"cds_start": 33,
"cds_end": null,
"cds_length": 90,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463715.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC41",
"gene_hgnc_id": 16917,
"hgvs_c": "c.*103G>T",
"hgvs_p": null,
"transcript": "ENST00000496156.5",
"protein_id": "ENSP00000477909.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496156.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "n.*86C>A",
"hgvs_p": null,
"transcript": "ENST00000473251.2",
"protein_id": "ENSP00000483843.1",
"transcript_support_level": 3,
"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": "ENST00000473251.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "n.*475C>A",
"hgvs_p": null,
"transcript": "ENST00000655446.1",
"protein_id": "ENSP00000499451.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000655446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "n.*86C>A",
"hgvs_p": null,
"transcript": "ENST00000473251.2",
"protein_id": "ENSP00000483843.1",
"transcript_support_level": 3,
"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": "ENST00000473251.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L",
"gene_hgnc_id": 9826,
"hgvs_c": "n.*475C>A",
"hgvs_p": null,
"transcript": "ENST00000655446.1",
"protein_id": "ENSP00000499451.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000655446.1"
},
{
"aa_ref": null,
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"canonical": false,
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"intron_variant"
],
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"exon_count": 5,
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"cds_start": null,
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "RAD54L",
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"hgvs_c": "n.-37C>A",
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"transcript": "ENST00000476687.2",
"protein_id": "ENSP00000479734.1",
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"biotype": "nonsense_mediated_decay",
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}
],
"gene_symbol": "RAD54L",
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"dbsnp": "rs143302558",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.876,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003579.4",
"gene_symbol": "RAD54L",
"hgnc_id": 9826,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Pro269Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000496156.5",
"gene_symbol": "LRRC41",
"hgnc_id": 16917,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*103G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}