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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: 4-150220727-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=150220727&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 150220727,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001040261.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1081T>C",
"hgvs_p": "p.Ser361Pro",
"transcript": "NM_001040260.4",
"protein_id": "NP_001035350.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 766,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000296550.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040260.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1081T>C",
"hgvs_p": "p.Ser361Pro",
"transcript": "ENST00000296550.12",
"protein_id": "ENSP00000296550.7",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 766,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_001040260.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296550.12"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro",
"transcript": "ENST00000302176.8",
"protein_id": "ENSP00000303887.8",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 783,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302176.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "n.1078T>C",
"hgvs_p": null,
"transcript": "ENST00000411937.6",
"protein_id": "ENSP00000401916.2",
"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": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000411937.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro",
"transcript": "NM_001040261.5",
"protein_id": "NP_001035351.4",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 783,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040261.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Ser377Pro",
"transcript": "ENST00000897298.1",
"protein_id": "ENSP00000567357.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 782,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897298.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1078T>C",
"hgvs_p": "p.Ser360Pro",
"transcript": "NM_001410852.1",
"protein_id": "NP_001397781.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 765,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410852.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1078T>C",
"hgvs_p": "p.Ser360Pro",
"transcript": "ENST00000506325.5",
"protein_id": "ENSP00000427235.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 765,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506325.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Ser377Pro",
"transcript": "ENST00000635524.1",
"protein_id": "ENSP00000489372.1",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 716,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635524.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1147T>C",
"hgvs_p": "p.Ser383Pro",
"transcript": "ENST00000897300.1",
"protein_id": "ENSP00000567359.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 699,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897300.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1144T>C",
"hgvs_p": "p.Ser382Pro",
"transcript": "ENST00000953292.1",
"protein_id": "ENSP00000623351.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 698,
"cds_start": 1144,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953292.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro",
"transcript": "ENST00000953289.1",
"protein_id": "ENSP00000623348.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 694,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953289.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1081T>C",
"hgvs_p": "p.Ser361Pro",
"transcript": "ENST00000953290.1",
"protein_id": "ENSP00000623349.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 677,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953290.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1078T>C",
"hgvs_p": "p.Ser360Pro",
"transcript": "ENST00000953291.1",
"protein_id": "ENSP00000623350.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 676,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953291.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.781T>C",
"hgvs_p": "p.Ser261Pro",
"transcript": "ENST00000897299.1",
"protein_id": "ENSP00000567358.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 666,
"cds_start": 781,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897299.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Ser377Pro",
"transcript": "XM_005262785.4",
"protein_id": "XP_005262842.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 782,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262785.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro",
"transcript": "XM_017007832.3",
"protein_id": "XP_016863321.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 717,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007832.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro",
"transcript": "XM_017007833.3",
"protein_id": "XP_016863322.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 694,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007833.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1081T>C",
"hgvs_p": "p.Ser361Pro",
"transcript": "XM_024453913.2",
"protein_id": "XP_024309681.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 677,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453913.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1078T>C",
"hgvs_p": "p.Ser360Pro",
"transcript": "XM_024453914.2",
"protein_id": "XP_024309682.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 592,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453914.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro",
"transcript": "XM_024453915.2",
"protein_id": "XP_024309683.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 584,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453915.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Phe329Ser",
"transcript": "XM_047449701.1",
"protein_id": "XP_047305657.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 336,
"cds_start": 986,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449701.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "c.983T>C",
"hgvs_p": "p.Phe328Ser",
"transcript": "XM_047449702.1",
"protein_id": "XP_047305658.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 335,
"cds_start": 983,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "n.1661T>C",
"hgvs_p": null,
"transcript": "NR_036614.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_036614.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"hgvs_c": "n.1664T>C",
"hgvs_p": null,
"transcript": "XR_007096380.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096380.1"
}
],
"gene_symbol": "DCLK2",
"gene_hgnc_id": 19002,
"dbsnp": null,
"frequency_reference_population": 6.841986e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84199e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2158275842666626,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.0754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.025,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001040261.5",
"gene_symbol": "DCLK2",
"hgnc_id": 19002,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}