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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: 21-33581397-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33581397&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33581397,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "NM_017613.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1254dupT",
"hgvs_p": "p.Lys419fs",
"transcript": "NM_017613.4",
"protein_id": "NP_060083.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 566,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": "ENST00000303071.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017613.4"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1254dupT",
"hgvs_p": "p.Lys419fs",
"transcript": "ENST00000303071.10",
"protein_id": "ENSP00000307143.4",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 566,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": "NM_017613.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303071.10"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*283dupT",
"hgvs_p": null,
"transcript": "ENST00000442660.5",
"protein_id": "ENSP00000408788.1",
"transcript_support_level": 1,
"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": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442660.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*283dupT",
"hgvs_p": null,
"transcript": "ENST00000442660.5",
"protein_id": "ENSP00000408788.1",
"transcript_support_level": 1,
"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": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442660.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.465-1836dupT",
"hgvs_p": null,
"transcript": "ENST00000444517.5",
"protein_id": "ENSP00000392405.1",
"transcript_support_level": 1,
"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": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000444517.5"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1332dupT",
"hgvs_p": "p.Lys445fs",
"transcript": "ENST00000966267.1",
"protein_id": "ENSP00000636326.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 592,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966267.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1254dupT",
"hgvs_p": "p.Lys419fs",
"transcript": "ENST00000936411.1",
"protein_id": "ENSP00000606470.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 566,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936411.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1254dupT",
"hgvs_p": "p.Lys419fs",
"transcript": "ENST00000966265.1",
"protein_id": "ENSP00000636324.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 565,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966265.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1215dupT",
"hgvs_p": "p.Lys406fs",
"transcript": "ENST00000858803.1",
"protein_id": "ENSP00000528862.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 553,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858803.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1212dupT",
"hgvs_p": "p.Lys405fs",
"transcript": "ENST00000303113.10",
"protein_id": "ENSP00000304716.3",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 552,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303113.10"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1212dupT",
"hgvs_p": "p.Lys405fs",
"transcript": "ENST00000936413.1",
"protein_id": "ENSP00000606472.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 552,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936413.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1164dupT",
"hgvs_p": "p.Lys389fs",
"transcript": "ENST00000437395.5",
"protein_id": "ENSP00000399535.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 536,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437395.5"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1254dupT",
"hgvs_p": "p.Lys419fs",
"transcript": "ENST00000858802.1",
"protein_id": "ENSP00000528861.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 524,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858802.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1254dupT",
"hgvs_p": "p.Lys419fs",
"transcript": "ENST00000453626.5",
"protein_id": "ENSP00000394276.1",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 508,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453626.5"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1254dupT",
"hgvs_p": "p.Lys419fs",
"transcript": "ENST00000432378.5",
"protein_id": "ENSP00000398329.1",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 495,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432378.5"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.951dupT",
"hgvs_p": "p.Lys318fs",
"transcript": "ENST00000936415.1",
"protein_id": "ENSP00000606474.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 465,
"cds_start": 951,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936415.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.567dupT",
"hgvs_p": "p.Lys190fs",
"transcript": "ENST00000440810.1",
"protein_id": "ENSP00000401082.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 233,
"cds_start": 567,
"cds_end": null,
"cds_length": 702,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1152-6dupT",
"hgvs_p": null,
"transcript": "ENST00000936412.1",
"protein_id": "ENSP00000606471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1206+48dupT",
"hgvs_p": null,
"transcript": "ENST00000858799.1",
"protein_id": "ENSP00000528858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1206+48dupT",
"hgvs_p": null,
"transcript": "ENST00000936414.1",
"protein_id": "ENSP00000606473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.945+48dupT",
"hgvs_p": null,
"transcript": "ENST00000858801.1",
"protein_id": "ENSP00000528860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": null,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858801.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.864+48dupT",
"hgvs_p": null,
"transcript": "ENST00000966266.1",
"protein_id": "ENSP00000636325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966266.1"
},
{
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"protein_coding": true,
"strand": false,
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"feature": "ENST00000858800.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "DONSON",
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"hgvs_c": "n.*543dupT",
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"transcript": "ENST00000417871.5",
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"cdna_length": 1820,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000417871.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "DONSON",
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"hgvs_c": "n.*442dupT",
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"transcript": "ENST00000457359.5",
"protein_id": "ENSP00000415191.1",
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2273,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457359.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "DONSON",
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"transcript": "ENST00000462566.1",
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"biotype": "retained_intron",
"feature": "ENST00000462566.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 9,
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"gene_symbol": "DONSON",
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"feature": "ENST00000417871.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*442dupT",
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"transcript": "ENST00000457359.5",
"protein_id": "ENSP00000415191.1",
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"aa_start": null,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457359.5"
}
],
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"dbsnp": "rs765112107",
"frequency_reference_population": 0.000009293864,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000820896,
"gnomad_genomes_af": 0.0000197174,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 0.615,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_017613.4",
"gene_symbol": "DONSON",
"hgnc_id": 2993,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1254dupT",
"hgvs_p": "p.Lys419fs"
}
],
"clinvar_disease": " and limb abnormalities, short stature,Inborn genetic diseases,Microcephaly,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Inborn genetic diseases|Microcephaly, short stature, and limb abnormalities|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}