← Back to variant description
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: 15-52025949-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52025949&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52025949,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_002748.4",
"consequences": [
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+6573T>C",
"hgvs_p": null,
"transcript": "NM_002748.4",
"protein_id": "NP_002739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261845.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002748.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+6573T>C",
"hgvs_p": null,
"transcript": "ENST00000261845.7",
"protein_id": "ENSP00000261845.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002748.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261845.7"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+6578T>C",
"hgvs_p": null,
"transcript": "ENST00000680066.1",
"protein_id": "ENSP00000505862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680066.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+6567T>C",
"hgvs_p": null,
"transcript": "ENST00000680652.1",
"protein_id": "ENSP00000506184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680652.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+6587T>C",
"hgvs_p": null,
"transcript": "ENST00000680777.1",
"protein_id": "ENSP00000505601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680777.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+6559T>C",
"hgvs_p": null,
"transcript": "ENST00000681888.1",
"protein_id": "ENSP00000506036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681888.1"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-631-19881T>C",
"hgvs_p": null,
"transcript": "ENST00000691380.1",
"protein_id": "ENSP00000509662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691380.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-535+6573T>C",
"hgvs_p": null,
"transcript": "ENST00000895516.1",
"protein_id": "ENSP00000565575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895516.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-784-1690T>C",
"hgvs_p": null,
"transcript": "ENST00000955405.1",
"protein_id": "ENSP00000625464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955405.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+5917T>C",
"hgvs_p": null,
"transcript": "XM_005254537.4",
"protein_id": "XP_005254594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254537.4"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+6559T>C",
"hgvs_p": null,
"transcript": "XM_005254538.3",
"protein_id": "XP_005254595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254538.3"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-712+6573T>C",
"hgvs_p": null,
"transcript": "XM_011521782.2",
"protein_id": "XP_011520084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521782.2"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-946-1690T>C",
"hgvs_p": null,
"transcript": "XM_047432847.1",
"protein_id": "XP_047288803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432847.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-712+5917T>C",
"hgvs_p": null,
"transcript": "XM_047432849.1",
"protein_id": "XP_047288805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432849.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-866-1690T>C",
"hgvs_p": null,
"transcript": "XM_047432850.1",
"protein_id": "XP_047288806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432850.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+4385T>C",
"hgvs_p": null,
"transcript": "XM_047432851.1",
"protein_id": "XP_047288807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432851.1"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-631-19881T>C",
"hgvs_p": null,
"transcript": "XM_047432852.1",
"protein_id": "XP_047288808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432852.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-631-19881T>C",
"hgvs_p": null,
"transcript": "XM_047432853.1",
"protein_id": "XP_047288809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432853.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "c.-632+6573T>C",
"hgvs_p": null,
"transcript": "XM_047432855.1",
"protein_id": "XP_047288811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432855.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "n.224-16805T>C",
"hgvs_p": null,
"transcript": "ENST00000558063.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000558063.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "n.139+6573T>C",
"hgvs_p": null,
"transcript": "ENST00000558100.1",
"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": "pseudogene",
"feature": "ENST00000558100.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "n.111+5917T>C",
"hgvs_p": null,
"transcript": "ENST00000558841.1",
"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": "pseudogene",
"feature": "ENST00000558841.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "n.101+4385T>C",
"hgvs_p": null,
"transcript": "ENST00000558891.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000558891.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "n.196-19881T>C",
"hgvs_p": null,
"transcript": "ENST00000560254.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000560254.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "n.115+1254T>C",
"hgvs_p": null,
"transcript": "ENST00000560774.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000560774.1"
},
{
"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": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "n.317-19881T>C",
"hgvs_p": null,
"transcript": "ENST00000560802.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000560802.1"
}
],
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"dbsnp": "rs10518674",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.137,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002748.4",
"gene_symbol": "MAPK6",
"hgnc_id": 6879,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-632+6573T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}