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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: 17-54990825-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=54990825&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 54990825,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001398481.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "NM_178509.6",
"protein_id": "NP_848604.3",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 553,
"cds_start": 48,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376352.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178509.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "ENST00000376352.6",
"protein_id": "ENSP00000365530.2",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 553,
"cds_start": 48,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178509.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376352.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "ENST00000434978.6",
"protein_id": "ENSP00000391087.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 531,
"cds_start": 48,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434978.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.-52+4559G>T",
"hgvs_p": null,
"transcript": "ENST00000398391.6",
"protein_id": "ENSP00000381427.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398391.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "ENST00000942650.1",
"protein_id": "ENSP00000612709.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 569,
"cds_start": 48,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942650.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "NM_001398481.1",
"protein_id": "NP_001385410.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 555,
"cds_start": 48,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398481.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "ENST00000903182.1",
"protein_id": "ENSP00000573241.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 555,
"cds_start": 48,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903182.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "NM_001398483.1",
"protein_id": "NP_001385412.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 496,
"cds_start": 48,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398483.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "ENST00000903181.1",
"protein_id": "ENSP00000573240.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 494,
"cds_start": 48,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903181.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "ENST00000933366.1",
"protein_id": "ENSP00000603425.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 490,
"cds_start": 48,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933366.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "NM_001398482.1",
"protein_id": "NP_001385411.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 320,
"cds_start": 48,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398482.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "ENST00000405898.5",
"protein_id": "ENSP00000385944.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 320,
"cds_start": 48,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405898.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_017024410.2",
"protein_id": "XP_016879899.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 571,
"cds_start": 48,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024410.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_017024411.3",
"protein_id": "XP_016879900.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 569,
"cds_start": 48,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024411.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_047435713.1",
"protein_id": "XP_047291669.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 523,
"cds_start": 48,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435713.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_047435714.1",
"protein_id": "XP_047291670.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 520,
"cds_start": 48,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435714.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_047435715.1",
"protein_id": "XP_047291671.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 509,
"cds_start": 48,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435715.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_047435716.1",
"protein_id": "XP_047291672.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 508,
"cds_start": 48,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435716.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_047435717.1",
"protein_id": "XP_047291673.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 498,
"cds_start": 48,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435717.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_017024414.3",
"protein_id": "XP_016879903.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 338,
"cds_start": 48,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024414.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn",
"transcript": "XM_006721797.5",
"protein_id": "XP_006721860.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 322,
"cds_start": 48,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721797.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.-52+4559G>T",
"hgvs_p": null,
"transcript": "XM_017024413.2",
"protein_id": "XP_016879902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024413.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "n.293G>T",
"hgvs_p": null,
"transcript": "ENST00000461444.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000461444.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "n.228G>T",
"hgvs_p": null,
"transcript": "ENST00000464340.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000464340.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "n.255G>T",
"hgvs_p": null,
"transcript": "XR_007065289.1",
"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": "XR_007065289.1"
}
],
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"dbsnp": "rs1445120718",
"frequency_reference_population": 6.9158017e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.9158e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11204490065574646,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7379999756813049,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.1775,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.054,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.994935482226515,
"dbscsnv_ada_prediction": "Pathogenic",
"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_001398481.1",
"gene_symbol": "STXBP4",
"hgnc_id": 19694,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Lys16Asn"
}
],
"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
}