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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: 15-82765931-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82765931&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82765931,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001007122.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Val552Met",
"transcript": "NM_001007122.4",
"protein_id": "NP_001007123.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 749,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334574.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007122.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Val552Met",
"transcript": "ENST00000334574.12",
"protein_id": "ENSP00000335651.8",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 749,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001007122.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334574.12"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Val507Met",
"transcript": "ENST00000541889.1",
"protein_id": "ENSP00000444078.1",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 704,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541889.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Val552Met",
"transcript": "ENST00000961201.1",
"protein_id": "ENSP00000631260.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 749,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961201.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"transcript": "ENST00000961199.1",
"protein_id": "ENSP00000631258.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 739,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961199.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1612G>A",
"hgvs_p": "p.Val538Met",
"transcript": "ENST00000961203.1",
"protein_id": "ENSP00000631262.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 735,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961203.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Met",
"transcript": "ENST00000961204.1",
"protein_id": "ENSP00000631263.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 710,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961204.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Val511Met",
"transcript": "ENST00000961202.1",
"protein_id": "ENSP00000631261.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 708,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961202.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Val507Met",
"transcript": "NM_001281805.2",
"protein_id": "NP_001268734.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 704,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281805.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Val507Met",
"transcript": "NM_001281806.2",
"protein_id": "NP_001268735.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 704,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281806.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Val507Met",
"transcript": "ENST00000961200.1",
"protein_id": "ENSP00000631259.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 704,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961200.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Val497Met",
"transcript": "ENST00000961205.1",
"protein_id": "ENSP00000631264.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 694,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961205.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Val475Met",
"transcript": "ENST00000878624.1",
"protein_id": "ENSP00000548683.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 672,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878624.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Val455Met",
"transcript": "ENST00000878625.1",
"protein_id": "ENSP00000548684.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 652,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878625.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Val430Met",
"transcript": "ENST00000878626.1",
"protein_id": "ENSP00000548685.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 627,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878626.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Val378Met",
"transcript": "ENST00000878627.1",
"protein_id": "ENSP00000548686.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 575,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878627.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Val552Met",
"transcript": "XM_005272425.6",
"protein_id": "XP_005272482.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 749,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272425.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Val552Met",
"transcript": "XM_024449844.2",
"protein_id": "XP_024305612.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 749,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449844.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Val552Met",
"transcript": "XM_024449845.2",
"protein_id": "XP_024305613.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 749,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449845.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Val475Met",
"transcript": "XM_011521235.4",
"protein_id": "XP_011519537.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 672,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521235.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1368G>A",
"hgvs_p": "p.Ala456Ala",
"transcript": "XM_047432156.1",
"protein_id": "XP_047288112.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 456,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432156.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1268-633G>A",
"hgvs_p": null,
"transcript": "ENST00000961198.1",
"protein_id": "ENSP00000631257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1037-633G>A",
"hgvs_p": null,
"transcript": "ENST00000961206.1",
"protein_id": "ENSP00000631265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNHG21",
"gene_hgnc_id": 50284,
"hgvs_c": "n.434+11147C>T",
"hgvs_p": null,
"transcript": "ENST00000834480.1",
"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": "ENST00000834480.1"
}
],
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"dbsnp": "rs759649017",
"frequency_reference_population": 0.00016582059,
"hom_count_reference_population": 0,
"allele_count_reference_population": 267,
"gnomad_exomes_af": 0.000168727,
"gnomad_genomes_af": 0.000137976,
"gnomad_exomes_ac": 246,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10609453916549683,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.0824,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.923,
"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": -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_001007122.4",
"gene_symbol": "FSD2",
"hgnc_id": 18024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Val552Met"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000834480.1",
"gene_symbol": "SNHG21",
"hgnc_id": 50284,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.434+11147C>T",
"hgvs_p": null
}
],
"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
}