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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: 3-121152478-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121152478&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121152478,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014980.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "NM_001308330.2",
"protein_id": "NP_001295259.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1162,
"cds_start": 671,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000471454.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308330.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000471454.6",
"protein_id": "ENSP00000420019.1",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 1162,
"cds_start": 671,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308330.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471454.6"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000273666.10",
"protein_id": "ENSP00000273666.6",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 1186,
"cds_start": 671,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273666.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.*442T>A",
"hgvs_p": null,
"transcript": "ENST00000461772.5",
"protein_id": "ENSP00000420642.1",
"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": "ENST00000461772.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.*442T>A",
"hgvs_p": null,
"transcript": "ENST00000461772.5",
"protein_id": "ENSP00000420642.1",
"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": "ENST00000461772.5"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "NM_001348343.2",
"protein_id": "NP_001335272.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1186,
"cds_start": 671,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348343.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "NM_014980.3",
"protein_id": "NP_055795.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1186,
"cds_start": 671,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014980.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000707001.1",
"protein_id": "ENSP00000516710.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1186,
"cds_start": 671,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707001.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "NM_001348344.2",
"protein_id": "NP_001335273.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1162,
"cds_start": 671,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348344.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "NM_001348345.2",
"protein_id": "NP_001335274.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1162,
"cds_start": 671,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348345.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000879204.1",
"protein_id": "ENSP00000549263.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1162,
"cds_start": 671,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879204.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000938469.1",
"protein_id": "ENSP00000608528.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1162,
"cds_start": 671,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938469.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000471262.1",
"protein_id": "ENSP00000420167.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 1128,
"cds_start": 671,
"cds_end": null,
"cds_length": 3388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471262.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000492541.5",
"protein_id": "ENSP00000420666.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 1026,
"cds_start": 671,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492541.5"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000472879.5",
"protein_id": "ENSP00000419627.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 1002,
"cds_start": 671,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472879.5"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "ENST00000497029.5",
"protein_id": "ENSP00000420287.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 1000,
"cds_start": 671,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497029.5"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "XM_006713825.4",
"protein_id": "XP_006713888.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1186,
"cds_start": 671,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713825.4"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.110T>A",
"hgvs_p": "p.Leu37Gln",
"transcript": "XM_047449249.1",
"protein_id": "XP_047305205.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 999,
"cds_start": 110,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449249.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "XM_017007534.2",
"protein_id": "XP_016863023.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 671,
"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": "XM_017007534.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "XM_011513331.3",
"protein_id": "XP_011511633.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 715,
"cds_start": 671,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513331.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "XM_011513333.4",
"protein_id": "XP_011511635.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 654,
"cds_start": 671,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513333.4"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln",
"transcript": "XM_017007535.3",
"protein_id": "XP_016863024.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 654,
"cds_start": 671,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007535.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.809T>A",
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"transcript": "NR_145516.2",
"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_145516.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.805T>A",
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"transcript": "NR_145517.2",
"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_145517.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.809T>A",
"hgvs_p": null,
"transcript": "XR_001740373.2",
"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": "XR_001740373.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.809T>A",
"hgvs_p": null,
"transcript": "XR_924217.3",
"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": "XR_924217.3"
}
],
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"dbsnp": "rs370714622",
"frequency_reference_population": 0.000026292955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.000026293,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8389420509338379,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5320000052452087,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.706,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9939,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.264,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.46,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.728695933482485,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014980.3",
"gene_symbol": "STXBP5L",
"hgnc_id": 30757,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224Gln"
}
],
"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
}