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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: X-150470024-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150470024&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150470024,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001400512.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "NM_005491.5",
"protein_id": "NP_005482.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 774,
"cds_start": 451,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370401.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005491.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000370401.7",
"protein_id": "ENSP00000359428.2",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 774,
"cds_start": 451,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005491.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370401.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Thr126Ala",
"transcript": "ENST00000426613.5",
"protein_id": "ENSP00000397438.2",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 749,
"cds_start": 376,
"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": "ENST00000426613.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "NM_001400512.1",
"protein_id": "NP_001387441.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1023,
"cds_start": 451,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400512.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000682016.1",
"protein_id": "ENSP00000507991.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1023,
"cds_start": 451,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682016.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Thr126Ala",
"transcript": "NM_001177465.3",
"protein_id": "NP_001170936.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 998,
"cds_start": 376,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177465.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Thr126Ala",
"transcript": "ENST00000432680.7",
"protein_id": "ENSP00000414517.2",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 998,
"cds_start": 376,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432680.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "NM_001400515.1",
"protein_id": "NP_001387444.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 774,
"cds_start": 451,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400515.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000682253.1",
"protein_id": "ENSP00000506890.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 774,
"cds_start": 451,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682253.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000902930.1",
"protein_id": "ENSP00000572989.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 774,
"cds_start": 451,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902930.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Thr126Ala",
"transcript": "NM_001177466.3",
"protein_id": "NP_001170937.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 749,
"cds_start": 376,
"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": "NM_001177466.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Thr126Ala",
"transcript": "ENST00000902932.1",
"protein_id": "ENSP00000572991.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 749,
"cds_start": 376,
"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": "ENST00000902932.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Thr113Ala",
"transcript": "ENST00000683696.1",
"protein_id": "ENSP00000507408.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 736,
"cds_start": 337,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683696.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "NM_001400513.1",
"protein_id": "NP_001387442.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 733,
"cds_start": 451,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400513.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000262858.8",
"protein_id": "ENSP00000262858.6",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 733,
"cds_start": 451,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262858.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "ENST00000902931.1",
"protein_id": "ENSP00000572990.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 733,
"cds_start": 451,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902931.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Thr126Ala",
"transcript": "NM_001400514.1",
"protein_id": "NP_001387443.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 708,
"cds_start": 376,
"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": "NM_001400514.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Thr126Ala",
"transcript": "ENST00000683453.1",
"protein_id": "ENSP00000507454.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 708,
"cds_start": 376,
"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": "ENST00000683453.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Thr126Ala",
"transcript": "ENST00000967604.1",
"protein_id": "ENSP00000637663.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 708,
"cds_start": 376,
"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": "ENST00000967604.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "XM_011531092.4",
"protein_id": "XP_011529394.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1023,
"cds_start": 451,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531092.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "XM_024452317.2",
"protein_id": "XP_024308085.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1023,
"cds_start": 451,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452317.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "XM_047441709.1",
"protein_id": "XP_047297665.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1023,
"cds_start": 451,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441709.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala",
"transcript": "XM_047441710.1",
"protein_id": "XP_047297666.1",
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"aa_start": 151,
"aa_end": null,
"aa_length": 1023,
"cds_start": 451,
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"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "n.628A>G",
"hgvs_p": null,
"transcript": "ENST00000468306.1",
"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": "ENST00000468306.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.*42A>G",
"hgvs_p": null,
"transcript": "ENST00000358892.7",
"protein_id": "ENSP00000351765.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358892.7"
}
],
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"dbsnp": "rs138334535",
"frequency_reference_population": 0.00022642664,
"hom_count_reference_population": 90,
"allele_count_reference_population": 274,
"gnomad_exomes_af": 0.000234033,
"gnomad_genomes_af": 0.000151825,
"gnomad_exomes_ac": 257,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.021527528762817383,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0638,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.038,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001400512.1",
"gene_symbol": "MAMLD1",
"hgnc_id": 2568,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.451A>G",
"hgvs_p": "p.Thr151Ala"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}