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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: 8-6414865-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=6414865&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 6414865,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000344683.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "NM_024596.5",
"protein_id": "NP_078872.3",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 835,
"cds_start": 215,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "ENST00000344683.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000344683.10",
"protein_id": "ENSP00000342924.5",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 835,
"cds_start": 215,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "NM_024596.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000519480.6",
"protein_id": "ENSP00000430962.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 610,
"cds_start": 215,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 3773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000692836.1",
"protein_id": "ENSP00000509971.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 890,
"cds_start": 215,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "NM_001322042.2",
"protein_id": "NP_001308971.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 875,
"cds_start": 215,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000689348.1",
"protein_id": "ENSP00000509554.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 875,
"cds_start": 215,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "NM_001410917.1",
"protein_id": "NP_001397846.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 871,
"cds_start": 215,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000692938.1",
"protein_id": "ENSP00000509072.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 871,
"cds_start": 215,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "NM_001363979.1",
"protein_id": "NP_001350908.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 830,
"cds_start": 215,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000690826.1",
"protein_id": "ENSP00000510536.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 830,
"cds_start": 215,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "NM_001410916.1",
"protein_id": "NP_001397845.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 744,
"cds_start": 215,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000691435.1",
"protein_id": "ENSP00000510652.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 744,
"cds_start": 215,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "NM_001363980.2",
"protein_id": "NP_001350909.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 742,
"cds_start": 215,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 7729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000689633.1",
"protein_id": "ENSP00000509054.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 742,
"cds_start": 215,
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"cds_length": 2229,
"cdna_start": 236,
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"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "NM_001172574.2",
"protein_id": "NP_001166045.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 610,
"cds_start": 215,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Ser70Leu",
"transcript": "NM_001322043.2",
"protein_id": "NP_001308972.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 608,
"cds_start": 209,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 250,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Ser70Leu",
"transcript": "ENST00000685179.1",
"protein_id": "ENSP00000510001.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 608,
"cds_start": 209,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000686750.1",
"protein_id": "ENSP00000509053.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 580,
"cds_start": 215,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ser38Leu",
"transcript": "NM_001322045.2",
"protein_id": "NP_001308974.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 576,
"cds_start": 113,
"cds_end": null,
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"cdna_start": 351,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "NM_001172575.2",
"protein_id": "NP_001166046.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 562,
"cds_start": 215,
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"cdna_start": 256,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000522905.1",
"protein_id": "ENSP00000430768.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 562,
"cds_start": 215,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000690708.1",
"protein_id": "ENSP00000510400.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 450,
"cds_start": 215,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
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"hgvs_c": "n.*225C>T",
"hgvs_p": null,
"transcript": "ENST00000691655.1",
"protein_id": "ENSP00000509652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "n.114+5495C>T",
"hgvs_p": null,
"transcript": "ENST00000690518.1",
"protein_id": "ENSP00000509135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "n.114+5495C>T",
"hgvs_p": null,
"transcript": "ENST00000693231.1",
"protein_id": "ENSP00000510764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"dbsnp": "rs387906961",
"frequency_reference_population": 0.000008677844,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889409,
"gnomad_genomes_af": 0.0000065937,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8793516159057617,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.512,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8294,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.474,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000344683.10",
"gene_symbol": "MCPH1",
"hgnc_id": 6954,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu"
}
],
"clinvar_disease": " autosomal recessive, primary,Autosomal recessive primary microcephaly,Microcephaly 1,See cases",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "Microcephaly 1, primary, autosomal recessive|See cases|Autosomal recessive primary microcephaly",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}