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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: 5-150223045-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150223045&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150223045,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_015981.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1410T>C",
"hgvs_p": "p.Asp470Asp",
"transcript": "NM_015981.4",
"protein_id": "NP_057065.2",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 489,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000671881.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015981.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1410T>C",
"hgvs_p": "p.Asp470Asp",
"transcript": "ENST00000671881.1",
"protein_id": "ENSP00000500386.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 489,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015981.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671881.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Asp459Asp",
"transcript": "ENST00000348628.11",
"protein_id": "ENSP00000261793.8",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 478,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348628.11"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1206T>C",
"hgvs_p": "p.Asp402Asp",
"transcript": "ENST00000398376.8",
"protein_id": "ENSP00000381412.4",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 421,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398376.8"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1315T>C",
"hgvs_p": "p.Trp439Arg",
"transcript": "ENST00000672396.1",
"protein_id": "ENSP00000499987.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 559,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672396.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1282T>C",
"hgvs_p": "p.Trp428Arg",
"transcript": "ENST00000510347.2",
"protein_id": "ENSP00000426607.2",
"transcript_support_level": 4,
"aa_start": 428,
"aa_end": null,
"aa_length": 548,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510347.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1410T>C",
"hgvs_p": "p.Asp470Asp",
"transcript": "NM_001363989.1",
"protein_id": "NP_001350918.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 489,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363989.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1410T>C",
"hgvs_p": "p.Asp470Asp",
"transcript": "ENST00000672829.1",
"protein_id": "ENSP00000500613.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 489,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672829.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1410T>C",
"hgvs_p": "p.Asp470Asp",
"transcript": "ENST00000682786.1",
"protein_id": "ENSP00000507199.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 489,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682786.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1410T>C",
"hgvs_p": "p.Asp470Asp",
"transcript": "ENST00000856241.1",
"protein_id": "ENSP00000526300.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 489,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856241.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Asp459Asp",
"transcript": "ENST00000856242.1",
"protein_id": "ENSP00000526301.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 485,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856242.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Asp459Asp",
"transcript": "NM_001363990.1",
"protein_id": "NP_001350919.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 478,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363990.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Asp459Asp",
"transcript": "NM_001369025.2",
"protein_id": "NP_001355954.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 478,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369025.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Asp459Asp",
"transcript": "NM_171825.3",
"protein_id": "NP_741960.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 478,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_171825.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Asp459Asp",
"transcript": "ENST00000672479.1",
"protein_id": "ENSP00000500642.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 478,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672479.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Asp459Asp",
"transcript": "ENST00000672752.1",
"protein_id": "ENSP00000499939.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 478,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672752.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Asp459Asp",
"transcript": "ENST00000856243.1",
"protein_id": "ENSP00000526302.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 478,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856243.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1350T>C",
"hgvs_p": "p.Asp450Asp",
"transcript": "ENST00000856239.1",
"protein_id": "ENSP00000526298.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 469,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856239.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1344T>C",
"hgvs_p": "p.Asp448Asp",
"transcript": "ENST00000672785.1",
"protein_id": "ENSP00000500496.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 467,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672785.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1317T>C",
"hgvs_p": "p.Asp439Asp",
"transcript": "ENST00000683332.1",
"protein_id": "ENSP00000507006.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 458,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683332.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asp418Asp",
"transcript": "ENST00000856244.1",
"protein_id": "ENSP00000526303.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 437,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856244.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1239T>C",
"hgvs_p": "p.Asp413Asp",
"transcript": "ENST00000856240.1",
"protein_id": "ENSP00000526299.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 432,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"protein_coding": true,
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"exon_rank": 5,
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"gene_symbol": "CAMK2A",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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"consequences": [
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"biotype": "nonsense_mediated_decay",
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{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
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],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
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"hgvs_c": "n.1361T>C",
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"transcript": "ENST00000683273.1",
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"aa_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000683273.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CAMK2A",
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"transcript": "ENST00000684093.1",
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},
{
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"protein_coding": false,
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],
"exon_rank": 3,
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"exon_count": 4,
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"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
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{
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"non_coding_transcript_exon_variant"
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"gene_symbol": "CAMK2A",
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"transcript": "ENST00000684465.1",
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"biotype": "pseudogene",
"feature": "ENST00000684465.1"
},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 18,
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"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "n.*245T>C",
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"transcript": "ENST00000672089.1",
"protein_id": "ENSP00000500700.1",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000672089.1"
}
],
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"dbsnp": "rs2241694",
"frequency_reference_population": 0.9179188,
"hom_count_reference_population": 680740,
"allele_count_reference_population": 1481699,
"gnomad_exomes_af": 0.915916,
"gnomad_genomes_af": 0.937136,
"gnomad_exomes_ac": 1338932,
"gnomad_genomes_ac": 142767,
"gnomad_exomes_homalt": 613745,
"gnomad_genomes_homalt": 66995,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.3965,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.439,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_015981.4",
"gene_symbol": "CAMK2A",
"hgnc_id": 1460,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1410T>C",
"hgvs_p": "p.Asp470Asp"
}
],
"clinvar_disease": " autosomal dominant 53, autosomal recessive 63,Intellectual disability,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Intellectual disability, autosomal recessive 63|Intellectual disability, autosomal dominant 53|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}