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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: 7-45064466-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45064466&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 45064466,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001363458.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.295delC",
"hgvs_p": "p.His99fs",
"transcript": "NM_031443.4",
"protein_id": "NP_113631.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 444,
"cds_start": 295,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": "ENST00000258781.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031443.4"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.295delC",
"hgvs_p": "p.His99fs",
"transcript": "ENST00000258781.11",
"protein_id": "ENSP00000258781.7",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 444,
"cds_start": 295,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": "NM_031443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258781.11"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.460delC",
"hgvs_p": "p.His154fs",
"transcript": "ENST00000938553.1",
"protein_id": "ENSP00000608612.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 499,
"cds_start": 460,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938553.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.295delC",
"hgvs_p": "p.His99fs",
"transcript": "ENST00000956241.1",
"protein_id": "ENSP00000626300.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 494,
"cds_start": 295,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956241.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.295delC",
"hgvs_p": "p.His99fs",
"transcript": "NM_001363458.2",
"protein_id": "NP_001350387.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 485,
"cds_start": 295,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363458.2"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.295delC",
"hgvs_p": "p.His99fs",
"transcript": "ENST00000860886.1",
"protein_id": "ENSP00000530945.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 485,
"cds_start": 295,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860886.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.295delC",
"hgvs_p": "p.His99fs",
"transcript": "ENST00000956242.1",
"protein_id": "ENSP00000626301.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 481,
"cds_start": 295,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956242.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.211delC",
"hgvs_p": "p.His71fs",
"transcript": "ENST00000956246.1",
"protein_id": "ENSP00000626305.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 466,
"cds_start": 211,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956246.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.358delC",
"hgvs_p": "p.His120fs",
"transcript": "NM_001029835.2",
"protein_id": "NP_001025006.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 465,
"cds_start": 358,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001029835.2"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.358delC",
"hgvs_p": "p.His120fs",
"transcript": "ENST00000381112.7",
"protein_id": "ENSP00000370503.3",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 465,
"cds_start": 358,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381112.7"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.205delC",
"hgvs_p": "p.His69fs",
"transcript": "ENST00000956249.1",
"protein_id": "ENSP00000626308.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 464,
"cds_start": 205,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956249.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.211delC",
"hgvs_p": "p.His71fs",
"transcript": "ENST00000860893.1",
"protein_id": "ENSP00000530952.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 457,
"cds_start": 211,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860893.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.289delC",
"hgvs_p": "p.His97fs",
"transcript": "ENST00000860890.1",
"protein_id": "ENSP00000530949.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 442,
"cds_start": 289,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860890.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.286delC",
"hgvs_p": "p.His96fs",
"transcript": "ENST00000956244.1",
"protein_id": "ENSP00000626303.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 441,
"cds_start": 286,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956244.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.277delC",
"hgvs_p": "p.His93fs",
"transcript": "ENST00000475551.5",
"protein_id": "ENSP00000417180.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 438,
"cds_start": 277,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475551.5"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.121delC",
"hgvs_p": "p.His41fs",
"transcript": "NM_001363459.2",
"protein_id": "NP_001350388.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 427,
"cds_start": 121,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 254,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363459.2"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.121delC",
"hgvs_p": "p.His41fs",
"transcript": "ENST00000860888.1",
"protein_id": "ENSP00000530947.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 427,
"cds_start": 121,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860888.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.211delC",
"hgvs_p": "p.His71fs",
"transcript": "ENST00000860887.1",
"protein_id": "ENSP00000530946.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 416,
"cds_start": 211,
"cds_end": null,
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"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860887.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.205delC",
"hgvs_p": "p.His69fs",
"transcript": "ENST00000860891.1",
"protein_id": "ENSP00000530950.1",
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"aa_start": 69,
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"aa_length": 414,
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"cdna_start": 295,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860891.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.121delC",
"hgvs_p": "p.His41fs",
"transcript": "NM_001167934.2",
"protein_id": "NP_001161406.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 386,
"cds_start": 121,
"cds_end": null,
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"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167934.2"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.121delC",
"hgvs_p": "p.His41fs",
"transcript": "ENST00000541586.5",
"protein_id": "ENSP00000444725.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 386,
"cds_start": 121,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541586.5"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.37delC",
"hgvs_p": "p.His13fs",
"transcript": "ENST00000938554.1",
"protein_id": "ENSP00000608613.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 358,
"cds_start": 37,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 76,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938554.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
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{
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{
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"feature": "ENST00000488727.5"
},
{
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"strand": true,
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],
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"feature": "ENST00000492883.5"
},
{
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"protein_coding": false,
"strand": true,
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],
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"feature": "ENST00000648329.1"
},
{
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"non_coding_transcript_exon_variant"
],
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{
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"intron_variant"
],
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"feature": "ENST00000480658.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"intron_rank_end": null,
"gene_symbol": "CCM2",
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"hgvs_c": "n.-136delC",
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"transcript": "ENST00000481194.1",
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"biotype": "retained_intron",
"feature": "ENST00000481194.1"
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],
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"dbsnp": "rs1554375233",
"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,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.059,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001363458.2",
"gene_symbol": "CCM2",
"hgnc_id": 21708,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.295delC",
"hgvs_p": "p.His99fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}