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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: 3-48469138-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48469138&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48469138,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016479.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Ala231Val",
"transcript": "NM_016479.6",
"protein_id": "NP_057563.3",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 240,
"cds_start": 692,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296444.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016479.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Ala231Val",
"transcript": "ENST00000296444.7",
"protein_id": "ENSP00000296444.2",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 240,
"cds_start": 692,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016479.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296444.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "ENST00000426002.5",
"protein_id": "ENSP00000390388.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 137,
"cds_start": 383,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426002.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.824C>T",
"hgvs_p": null,
"transcript": "ENST00000460758.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000460758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.646C>T",
"hgvs_p": null,
"transcript": "ENST00000494854.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000494854.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Ala233Val",
"transcript": "ENST00000949300.1",
"protein_id": "ENSP00000619359.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 242,
"cds_start": 698,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949300.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ala230Val",
"transcript": "ENST00000929322.1",
"protein_id": "ENSP00000599381.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 239,
"cds_start": 689,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929322.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ala230Val",
"transcript": "ENST00000949298.1",
"protein_id": "ENSP00000619357.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 239,
"cds_start": 689,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949298.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"transcript": "NM_001272065.3",
"protein_id": "NP_001258994.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 233,
"cds_start": 671,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272065.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"transcript": "ENST00000443308.6",
"protein_id": "ENSP00000395373.2",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 233,
"cds_start": 671,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443308.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "ENST00000949299.1",
"protein_id": "ENSP00000619358.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 232,
"cds_start": 668,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949299.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "NM_001272066.2",
"protein_id": "NP_001258995.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 209,
"cds_start": 599,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272066.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "NM_001272067.2",
"protein_id": "NP_001258996.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 209,
"cds_start": 599,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272067.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "NM_001272068.2",
"protein_id": "NP_001258997.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 209,
"cds_start": 599,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272068.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000442747.5",
"protein_id": "ENSP00000408223.1",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 209,
"cds_start": 599,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442747.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000444115.5",
"protein_id": "ENSP00000407957.1",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 209,
"cds_start": 599,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444115.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "ENST00000619810.4",
"protein_id": "ENSP00000484992.1",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 209,
"cds_start": 599,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619810.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "NM_001272082.4",
"protein_id": "NP_001259011.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 137,
"cds_start": 383,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272082.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.*200C>T",
"hgvs_p": null,
"transcript": "NM_001272083.4",
"protein_id": "NP_001259012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272083.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.*903C>T",
"hgvs_p": null,
"transcript": "ENST00000417962.5",
"protein_id": "ENSP00000407330.1",
"transcript_support_level": 2,
"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": "ENST00000417962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.477C>T",
"hgvs_p": null,
"transcript": "ENST00000465449.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465449.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.602C>T",
"hgvs_p": null,
"transcript": "ENST00000497863.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000497863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.*903C>T",
"hgvs_p": null,
"transcript": "ENST00000417962.5",
"protein_id": "ENSP00000407330.1",
"transcript_support_level": 2,
"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": "ENST00000417962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.331+223C>T",
"hgvs_p": null,
"transcript": "ENST00000466424.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000466424.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.*222C>T",
"hgvs_p": null,
"transcript": "ENST00000486344.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000486344.5"
}
],
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"dbsnp": "rs372768781",
"frequency_reference_population": 0.000026037405,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000184836,
"gnomad_genomes_af": 0.0000984846,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19802305102348328,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.2566,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.456,
"phylop100way_prediction": "Uncertain_significance",
"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": -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_016479.6",
"gene_symbol": "SHISA5",
"hgnc_id": 30376,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Ala231Val"
}
],
"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
}