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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: 8-42417930-CGGGA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42417930&ref=CGGGA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42417930,
"ref": "CGGGA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_006749.5",
"consequences": [
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "NM_001257180.2",
"protein_id": "NP_001244109.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": "ENST00000520262.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257180.2"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000520262.6",
"protein_id": "ENSP00000429754.1",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": "NM_001257180.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520262.6"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000342228.7",
"protein_id": "ENSP00000340465.3",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342228.7"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000520179.5",
"protein_id": "ENSP00000429712.1",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520179.5"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1993_1996delTCCC",
"hgvs_p": "p.Ser665fs",
"transcript": "ENST00000965915.1",
"protein_id": "ENSP00000635974.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 707,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965915.1"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1849_1852delTCCC",
"hgvs_p": "p.Ser617fs",
"transcript": "ENST00000965920.1",
"protein_id": "ENSP00000635979.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 659,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965920.1"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1849_1852delTCCC",
"hgvs_p": "p.Ser617fs",
"transcript": "ENST00000965925.1",
"protein_id": "ENSP00000635984.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 659,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965925.1"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "NM_001257181.2",
"protein_id": "NP_001244110.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257181.2"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "NM_006749.5",
"protein_id": "NP_006740.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006749.5"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000517366.2",
"protein_id": "ENSP00000427756.2",
"transcript_support_level": 4,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517366.2"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000518384.2",
"protein_id": "ENSP00000430462.2",
"transcript_support_level": 4,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
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"cdna_start": 2303,
"cdna_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000518384.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000518717.2",
"protein_id": "ENSP00000430166.2",
"transcript_support_level": 4,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
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"cdna_start": 2170,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000518717.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000713988.1",
"protein_id": "ENSP00000519279.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
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"cds_start": 1828,
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"cdna_start": 2865,
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},
{
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"strand": false,
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],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908098.1",
"protein_id": "ENSP00000578157.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1828,
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"cdna_start": 2766,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908098.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908099.1",
"protein_id": "ENSP00000578158.1",
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"cdna_start": 2226,
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"biotype": "protein_coding",
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},
{
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"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908100.1",
"protein_id": "ENSP00000578159.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
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"cds_start": 1828,
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"cdna_start": 2337,
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"cdna_length": 3819,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000908100.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908101.1",
"protein_id": "ENSP00000578160.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
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"cds_length": 1959,
"cdna_start": 3444,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000908101.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908107.1",
"protein_id": "ENSP00000578166.1",
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"cdna_start": 2744,
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},
{
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"strand": false,
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],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908108.1",
"protein_id": "ENSP00000578167.1",
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"aa_end": null,
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"cdna_start": 2493,
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"biotype": "protein_coding",
"feature": "ENST00000908108.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908109.1",
"protein_id": "ENSP00000578168.1",
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"cdna_start": 2453,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908109.1"
},
{
"aa_ref": "SR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908110.1",
"protein_id": "ENSP00000578169.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908110.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000908111.1",
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{
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],
"gene_symbol": "SLC20A2",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84176e-7,
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"gnomad_exomes_homalt": 0,
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"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",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006749.5",
"gene_symbol": "SLC20A2",
"hgnc_id": 10947,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1828_1831delTCCC",
"hgvs_p": "p.Ser610fs"
}
],
"clinvar_disease": "Idiopathic basal ganglia calcification 1,SLC20A2-related disorder",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SLC20A2-related disorder|Idiopathic basal ganglia calcification 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}