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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: 9-110136248-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=110136248&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 110136248,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007203.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"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.704A>G",
"hgvs_p": "p.Glu235Gly",
"transcript": "NM_007203.5",
"protein_id": "NP_009134.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1103,
"cds_start": 704,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374530.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007203.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.704A>G",
"hgvs_p": "p.Glu235Gly",
"transcript": "ENST00000374530.8",
"protein_id": "ENSP00000363654.3",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 1103,
"cds_start": 704,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007203.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374530.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.278A>G",
"hgvs_p": "p.Glu93Gly",
"transcript": "ENST00000434623.6",
"protein_id": "ENSP00000404782.2",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 961,
"cds_start": 278,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434623.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.278A>G",
"hgvs_p": "p.Glu93Gly",
"transcript": "ENST00000374525.5",
"protein_id": "ENSP00000363649.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 948,
"cds_start": 278,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374525.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.158A>G",
"hgvs_p": "p.Glu53Gly",
"transcript": "ENST00000480388.1",
"protein_id": "ENSP00000419268.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 777,
"cds_start": 158,
"cds_end": null,
"cds_length": 2336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480388.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.704A>G",
"hgvs_p": "p.Glu235Gly",
"transcript": "NM_147150.3",
"protein_id": "NP_671492.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1090,
"cds_start": 704,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147150.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.704A>G",
"hgvs_p": "p.Glu235Gly",
"transcript": "ENST00000302798.7",
"protein_id": "ENSP00000305861.7",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 1090,
"cds_start": 704,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302798.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.704A>G",
"hgvs_p": "p.Glu235Gly",
"transcript": "ENST00000879960.1",
"protein_id": "ENSP00000550019.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1090,
"cds_start": 704,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879960.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.278A>G",
"hgvs_p": "p.Glu93Gly",
"transcript": "NM_001198656.1",
"protein_id": "NP_001185585.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 961,
"cds_start": 278,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198656.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.278A>G",
"hgvs_p": "p.Glu93Gly",
"transcript": "NM_001004065.4",
"protein_id": "NP_001004065.2",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 948,
"cds_start": 278,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004065.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.11A>G",
"hgvs_p": "p.Glu4Gly",
"transcript": "NM_001136562.3",
"protein_id": "NP_001130034.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 859,
"cds_start": 11,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136562.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.11A>G",
"hgvs_p": "p.Glu4Gly",
"transcript": "ENST00000259318.7",
"protein_id": "ENSP00000259318.7",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 859,
"cds_start": 11,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259318.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1400A>G",
"hgvs_p": "p.Glu467Gly",
"transcript": "XM_047423410.1",
"protein_id": "XP_047279366.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 1335,
"cds_start": 1400,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423410.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1400A>G",
"hgvs_p": "p.Glu467Gly",
"transcript": "XM_047423411.1",
"protein_id": "XP_047279367.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 1322,
"cds_start": 1400,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423411.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1298A>G",
"hgvs_p": "p.Glu433Gly",
"transcript": "XM_047423412.1",
"protein_id": "XP_047279368.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 1301,
"cds_start": 1298,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423412.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1298A>G",
"hgvs_p": "p.Glu433Gly",
"transcript": "XM_047423413.1",
"protein_id": "XP_047279369.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1298,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423413.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1400A>G",
"hgvs_p": "p.Glu467Gly",
"transcript": "XM_047423414.1",
"protein_id": "XP_047279370.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1400,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423414.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1298A>G",
"hgvs_p": "p.Glu433Gly",
"transcript": "XM_047423415.1",
"protein_id": "XP_047279371.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1298,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423415.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.602A>G",
"hgvs_p": "p.Glu201Gly",
"transcript": "XM_047423416.1",
"protein_id": "XP_047279372.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1069,
"cds_start": 602,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423416.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.602A>G",
"hgvs_p": "p.Glu201Gly",
"transcript": "XM_047423417.1",
"protein_id": "XP_047279373.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1056,
"cds_start": 602,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423417.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.704A>G",
"hgvs_p": "p.Glu235Gly",
"transcript": "XM_047423418.1",
"protein_id": "XP_047279374.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1005,
"cds_start": 704,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423418.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.602A>G",
"hgvs_p": "p.Glu201Gly",
"transcript": "XM_047423419.1",
"protein_id": "XP_047279375.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 971,
"cds_start": 602,
"cds_end": null,
"cds_length": 2916,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047423419.1"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 5,
"intron_rank": null,
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"hgvs_c": "c.11A>G",
"hgvs_p": "p.Glu4Gly",
"transcript": "XM_047423420.1",
"protein_id": "XP_047279376.1",
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"biotype": "protein_coding",
"feature": "XM_047423420.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "PALM2AKAP2",
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"hgvs_c": "c.278A>G",
"hgvs_p": "p.Glu93Gly",
"transcript": "XM_047423421.1",
"protein_id": "XP_047279377.1",
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"aa_start": 93,
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"aa_length": 863,
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"biotype": "protein_coding",
"feature": "XM_047423421.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "PALM2AKAP2",
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"hgvs_c": "n.489A>G",
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"transcript": "ENST00000471798.1",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471798.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "PALM2AKAP2",
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"hgvs_c": "n.157-20071A>G",
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"transcript": "ENST00000495980.1",
"protein_id": "ENSP00000419364.1",
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495980.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.*99A>G",
"hgvs_p": null,
"transcript": "ENST00000413420.5",
"protein_id": "ENSP00000397839.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413420.5"
}
],
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"dbsnp": "rs150521379",
"frequency_reference_population": 0.00010780455,
"hom_count_reference_population": 0,
"allele_count_reference_population": 174,
"gnomad_exomes_af": 0.000106028,
"gnomad_genomes_af": 0.000124878,
"gnomad_exomes_ac": 155,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1067904531955719,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.1503,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.522,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007203.5",
"gene_symbol": "PALM2AKAP2",
"hgnc_id": 33529,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Glu235Gly"
}
],
"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
}