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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: 15-82765182-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82765182&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82765182,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001007122.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1804G>T",
"hgvs_p": "p.Asp602Tyr",
"transcript": "NM_001007122.4",
"protein_id": "NP_001007123.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 749,
"cds_start": 1804,
"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": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1804G>T",
"hgvs_p": "p.Asp602Tyr",
"transcript": "ENST00000334574.12",
"protein_id": "ENSP00000335651.8",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 749,
"cds_start": 1804,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Asp557Tyr",
"transcript": "ENST00000541889.1",
"protein_id": "ENSP00000444078.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 704,
"cds_start": 1669,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1804G>T",
"hgvs_p": "p.Asp602Tyr",
"transcript": "ENST00000961201.1",
"protein_id": "ENSP00000631260.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 749,
"cds_start": 1804,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1774G>T",
"hgvs_p": "p.Asp592Tyr",
"transcript": "ENST00000961199.1",
"protein_id": "ENSP00000631258.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 739,
"cds_start": 1774,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1762G>T",
"hgvs_p": "p.Asp588Tyr",
"transcript": "ENST00000961203.1",
"protein_id": "ENSP00000631262.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 735,
"cds_start": 1762,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1687G>T",
"hgvs_p": "p.Asp563Tyr",
"transcript": "ENST00000961204.1",
"protein_id": "ENSP00000631263.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 710,
"cds_start": 1687,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1681G>T",
"hgvs_p": "p.Asp561Tyr",
"transcript": "ENST00000961202.1",
"protein_id": "ENSP00000631261.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 708,
"cds_start": 1681,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Asp557Tyr",
"transcript": "NM_001281805.2",
"protein_id": "NP_001268734.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 704,
"cds_start": 1669,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Asp557Tyr",
"transcript": "NM_001281806.2",
"protein_id": "NP_001268735.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 704,
"cds_start": 1669,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Asp557Tyr",
"transcript": "ENST00000961200.1",
"protein_id": "ENSP00000631259.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 704,
"cds_start": 1669,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1639G>T",
"hgvs_p": "p.Asp547Tyr",
"transcript": "ENST00000961205.1",
"protein_id": "ENSP00000631264.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 694,
"cds_start": 1639,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Asp525Tyr",
"transcript": "ENST00000878624.1",
"protein_id": "ENSP00000548683.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 672,
"cds_start": 1573,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1513G>T",
"hgvs_p": "p.Asp505Tyr",
"transcript": "ENST00000878625.1",
"protein_id": "ENSP00000548684.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 652,
"cds_start": 1513,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1438G>T",
"hgvs_p": "p.Asp480Tyr",
"transcript": "ENST00000878626.1",
"protein_id": "ENSP00000548685.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 627,
"cds_start": 1438,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1384G>T",
"hgvs_p": "p.Asp462Tyr",
"transcript": "ENST00000961198.1",
"protein_id": "ENSP00000631257.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 609,
"cds_start": 1384,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Asp428Tyr",
"transcript": "ENST00000878627.1",
"protein_id": "ENSP00000548686.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 575,
"cds_start": 1282,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1153G>T",
"hgvs_p": "p.Asp385Tyr",
"transcript": "ENST00000961206.1",
"protein_id": "ENSP00000631265.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 532,
"cds_start": 1153,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1804G>T",
"hgvs_p": "p.Asp602Tyr",
"transcript": "XM_005272425.6",
"protein_id": "XP_005272482.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 749,
"cds_start": 1804,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1804G>T",
"hgvs_p": "p.Asp602Tyr",
"transcript": "XM_024449844.2",
"protein_id": "XP_024305612.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 749,
"cds_start": 1804,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1804G>T",
"hgvs_p": "p.Asp602Tyr",
"transcript": "XM_024449845.2",
"protein_id": "XP_024305613.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 749,
"cds_start": 1804,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Asp525Tyr",
"transcript": "XM_011521235.4",
"protein_id": "XP_011519537.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 672,
"cds_start": 1573,
"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": 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+10398C>A",
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"hgvs_c": "c.*147G>T",
"hgvs_p": null,
"transcript": "XM_047432156.1",
"protein_id": "XP_047288112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"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"
}
],
"gene_symbol": "FSD2",
"gene_hgnc_id": 18024,
"dbsnp": "rs979074782",
"frequency_reference_population": 0.0000074802147,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000550891,
"gnomad_genomes_af": 0.0000263089,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22502917051315308,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.1053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.279,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001007122.4",
"gene_symbol": "FSD2",
"hgnc_id": 18024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1804G>T",
"hgvs_p": "p.Asp602Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000834480.1",
"gene_symbol": "SNHG21",
"hgnc_id": 50284,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.434+10398C>A",
"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
}