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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: 9-110136397-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=110136397&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 110136397,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007203.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "NM_007203.5",
"protein_id": "NP_009134.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 1103,
"cds_start": 853,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 7618,
"mane_select": "ENST00000374530.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "ENST00000374530.8",
"protein_id": "ENSP00000363654.3",
"transcript_support_level": 2,
"aa_start": 285,
"aa_end": null,
"aa_length": 1103,
"cds_start": 853,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 7618,
"mane_select": "NM_007203.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"transcript": "ENST00000434623.6",
"protein_id": "ENSP00000404782.2",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 961,
"cds_start": 427,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"transcript": "ENST00000374525.5",
"protein_id": "ENSP00000363649.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 948,
"cds_start": 427,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000480388.1",
"protein_id": "ENSP00000419268.1",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 777,
"cds_start": 307,
"cds_end": null,
"cds_length": 2336,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "NM_147150.3",
"protein_id": "NP_671492.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 1090,
"cds_start": 853,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 7579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "ENST00000302798.7",
"protein_id": "ENSP00000305861.7",
"transcript_support_level": 2,
"aa_start": 285,
"aa_end": null,
"aa_length": 1090,
"cds_start": 853,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"transcript": "NM_001198656.1",
"protein_id": "NP_001185585.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 961,
"cds_start": 427,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 7003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"transcript": "NM_001004065.4",
"protein_id": "NP_001004065.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 948,
"cds_start": 427,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Arg54Cys",
"transcript": "NM_001136562.3",
"protein_id": "NP_001130034.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 859,
"cds_start": 160,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 6802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Arg54Cys",
"transcript": "ENST00000259318.7",
"protein_id": "ENSP00000259318.7",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 859,
"cds_start": 160,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1549C>T",
"hgvs_p": "p.Arg517Cys",
"transcript": "XM_047423410.1",
"protein_id": "XP_047279366.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1335,
"cds_start": 1549,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1549C>T",
"hgvs_p": "p.Arg517Cys",
"transcript": "XM_047423411.1",
"protein_id": "XP_047279367.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1322,
"cds_start": 1549,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 8275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Arg483Cys",
"transcript": "XM_047423412.1",
"protein_id": "XP_047279368.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 1301,
"cds_start": 1447,
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"cds_length": 3906,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 8212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Arg483Cys",
"transcript": "XM_047423413.1",
"protein_id": "XP_047279369.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1447,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 8173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1549C>T",
"hgvs_p": "p.Arg517Cys",
"transcript": "XM_047423414.1",
"protein_id": "XP_047279370.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1549,
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"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 8096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Arg483Cys",
"transcript": "XM_047423415.1",
"protein_id": "XP_047279371.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1447,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 7994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251Cys",
"transcript": "XM_047423416.1",
"protein_id": "XP_047279372.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1069,
"cds_start": 751,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 7516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251Cys",
"transcript": "XM_047423417.1",
"protein_id": "XP_047279373.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1056,
"cds_start": 751,
"cds_end": null,
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"cdna_start": 1042,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "XM_047423418.1",
"protein_id": "XP_047279374.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 1005,
"cds_start": 853,
"cds_end": null,
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"cdna_start": 1144,
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"cdna_length": 7400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251Cys",
"transcript": "XM_047423419.1",
"protein_id": "XP_047279375.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 971,
"cds_start": 751,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 7298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Arg54Cys",
"transcript": "XM_047423420.1",
"protein_id": "XP_047279376.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 872,
"cds_start": 160,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "PALM2AKAP2",
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"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"transcript": "XM_047423421.1",
"protein_id": "XP_047279377.1",
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"aa_start": 143,
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"aa_length": 863,
"cds_start": 427,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 529,
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"cdna_length": 6785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "PALM2AKAP2",
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"hgvs_c": "n.157-19922C>T",
"hgvs_p": null,
"transcript": "ENST00000495980.1",
"protein_id": "ENSP00000419364.1",
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"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": 572,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.*248C>T",
"hgvs_p": null,
"transcript": "ENST00000413420.5",
"protein_id": "ENSP00000397839.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "n.*63C>T",
"hgvs_p": null,
"transcript": "ENST00000471798.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"dbsnp": "rs772511912",
"frequency_reference_population": 0.000007524485,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752449,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25166141986846924,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0971,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.267,
"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": 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_007203.5",
"gene_symbol": "PALM2AKAP2",
"hgnc_id": 33529,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys"
}
],
"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
}