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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: 17-44911290-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44911290&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44911290,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000588735.3",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "NM_002055.5",
"protein_id": "NP_002046.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 432,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": "ENST00000588735.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "ENST00000588735.3",
"protein_id": "ENSP00000466598.2",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 432,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": "NM_002055.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.226C>T",
"hgvs_p": null,
"transcript": "ENST00000585543.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.2227C>T",
"hgvs_p": null,
"transcript": "ENST00000591327.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "ENST00000639277.1",
"protein_id": "ENSP00000492432.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 505,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "NM_001363846.2",
"protein_id": "NP_001350775.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 472,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "ENST00000253408.11",
"protein_id": "ENSP00000253408.5",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 472,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "NM_001242376.3",
"protein_id": "NP_001229305.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 438,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "ENST00000638281.1",
"protein_id": "ENSP00000491088.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 438,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "NM_001131019.3",
"protein_id": "NP_001124491.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 431,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "ENST00000435360.8",
"protein_id": "ENSP00000403962.1",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 431,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ala313Val",
"transcript": "ENST00000586793.6",
"protein_id": "ENSP00000468500.2",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 333,
"cds_start": 938,
"cds_end": null,
"cds_length": 1004,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000638618.1",
"protein_id": "ENSP00000492832.1",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 326,
"cds_start": 728,
"cds_end": null,
"cds_length": 981,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"transcript": "ENST00000592320.6",
"protein_id": "ENSP00000465320.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 247,
"cds_start": 650,
"cds_end": null,
"cds_length": 745,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000586125.2",
"protein_id": "ENSP00000467397.2",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 124,
"cds_start": 8,
"cds_end": null,
"cds_length": 375,
"cdna_start": 8,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.2C>T",
"hgvs_p": "p.Ala1Val",
"transcript": "ENST00000591880.2",
"protein_id": "ENSP00000467530.2",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 74,
"cds_start": 2,
"cds_end": null,
"cds_length": 225,
"cdna_start": 3,
"cdna_end": null,
"cdna_length": 1103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000639921.1",
"protein_id": "ENSP00000492156.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 28,
"cds_start": 29,
"cds_end": null,
"cds_length": 87,
"cdna_start": 30,
"cdna_end": null,
"cdna_length": 1226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.1602C>T",
"hgvs_p": null,
"transcript": "ENST00000586127.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.549C>T",
"hgvs_p": null,
"transcript": "ENST00000587997.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.453C>T",
"hgvs_p": null,
"transcript": "ENST00000588640.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.14C>T",
"hgvs_p": null,
"transcript": "ENST00000638488.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.8C>T",
"hgvs_p": null,
"transcript": "ENST00000639042.1",
"protein_id": "ENSP00000492860.1",
"transcript_support_level": 5,
"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": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.1087C>T",
"hgvs_p": null,
"transcript": "ENST00000640552.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "GFAP",
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"hgvs_c": "c.-11C>T",
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"transcript": "ENST00000638304.1",
"protein_id": "ENSP00000491042.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
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"cdna_length": 2139,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.*472C>T",
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"transcript": "ENST00000376990.8",
"protein_id": "ENSP00000366189.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1013,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.*122C>T",
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"transcript": "ENST00000591719.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 585,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"dbsnp": "rs797044586",
"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": 0.9820542931556702,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.866,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.91,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000588735.3",
"gene_symbol": "GFAP",
"hgnc_id": 4235,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val"
}
],
"clinvar_disease": "Alexander disease",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Alexander disease",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}