← Back to variant description
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: 1-6825130-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6825130&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6825130,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015215.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_015215.4",
"protein_id": "NP_056030.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1673,
"cds_start": 154,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303635.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015215.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000303635.12",
"protein_id": "ENSP00000306522.6",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 1673,
"cds_start": 154,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015215.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303635.12"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000476864.2",
"protein_id": "ENSP00000452319.2",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 1560,
"cds_start": 154,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476864.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000473578.5",
"protein_id": "ENSP00000451388.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 80,
"cds_start": 154,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473578.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.64T>G",
"hgvs_p": "p.Phe22Val",
"transcript": "NM_001349608.2",
"protein_id": "NP_001336537.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1643,
"cds_start": 64,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349608.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001349609.2",
"protein_id": "NP_001336538.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1567,
"cds_start": 154,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349609.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001349610.2",
"protein_id": "NP_001336539.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1565,
"cds_start": 154,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349610.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001410737.1",
"protein_id": "NP_001397666.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1560,
"cds_start": 154,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410737.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.64T>G",
"hgvs_p": "p.Phe22Val",
"transcript": "NM_001349612.2",
"protein_id": "NP_001336541.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1537,
"cds_start": 64,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349612.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.64T>G",
"hgvs_p": "p.Phe22Val",
"transcript": "ENST00000700415.1",
"protein_id": "ENSP00000514979.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1537,
"cds_start": 64,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700415.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001410738.1",
"protein_id": "NP_001397667.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1536,
"cds_start": 154,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410738.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000700417.1",
"protein_id": "ENSP00000514981.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1536,
"cds_start": 154,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700417.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001242701.2",
"protein_id": "NP_001229630.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 101,
"cds_start": 154,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242701.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000557126.5",
"protein_id": "ENSP00000451510.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 101,
"cds_start": 154,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557126.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.190T>G",
"hgvs_p": "p.Phe64Val",
"transcript": "NM_001349627.2",
"protein_id": "NP_001336556.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 92,
"cds_start": 190,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349627.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.190T>G",
"hgvs_p": "p.Phe64Val",
"transcript": "ENST00000467404.6",
"protein_id": "ENSP00000450530.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 92,
"cds_start": 190,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467404.6"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000700416.1",
"protein_id": "ENSP00000514980.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 83,
"cds_start": 154,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700416.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001195563.2",
"protein_id": "NP_001182492.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 80,
"cds_start": 154,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195563.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_011541083.3",
"protein_id": "XP_011539385.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1680,
"cds_start": 154,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541083.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_011541084.3",
"protein_id": "XP_011539386.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1680,
"cds_start": 154,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541084.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.142T>G",
"hgvs_p": "p.Phe48Val",
"transcript": "XM_047415988.1",
"protein_id": "XP_047271944.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1676,
"cds_start": 142,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415988.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_011541086.4",
"protein_id": "XP_011539388.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1673,
"cds_start": 154,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541086.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_017000774.3",
"protein_id": "XP_016856263.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1661,
"cds_start": 154,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000774.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_011541087.3",
"protein_id": "XP_011539389.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1656,
"cds_start": 154,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541087.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_047415993.1",
"protein_id": "XP_047271949.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1654,
"cds_start": 154,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415993.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.64T>G",
"hgvs_p": "p.Phe22Val",
"transcript": "XM_011541088.3",
"protein_id": "XP_011539390.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1650,
"cds_start": 64,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541088.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_047415997.1",
"protein_id": "XP_047271953.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1649,
"cds_start": 154,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415997.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.64T>G",
"hgvs_p": "p.Phe22Val",
"transcript": "XM_047415999.1",
"protein_id": "XP_047271955.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1643,
"cds_start": 64,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415999.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.64T>G",
"hgvs_p": "p.Phe22Val",
"transcript": "XM_047416005.1",
"protein_id": "XP_047271961.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1619,
"cds_start": 64,
"cds_end": null,
"cds_length": 4860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416005.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_011541090.4",
"protein_id": "XP_011539392.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1567,
"cds_start": 154,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541090.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_017000778.2",
"protein_id": "XP_016856267.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1560,
"cds_start": 154,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000778.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.64T>G",
"hgvs_p": "p.Phe22Val",
"transcript": "XM_047416024.1",
"protein_id": "XP_047271980.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1506,
"cds_start": 64,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416024.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_011541091.3",
"protein_id": "XP_011539393.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 978,
"cds_start": 154,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541091.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_011541092.4",
"protein_id": "XP_011539394.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 977,
"cds_start": 154,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541092.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_017000780.3",
"protein_id": "XP_016856269.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 198,
"cds_start": 154,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000780.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "XM_017000781.2",
"protein_id": "XP_016856270.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 126,
"cds_start": 154,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000781.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.-165T>G",
"hgvs_p": null,
"transcript": "XM_047416009.1",
"protein_id": "XP_047271965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1574,
"cds_start": null,
"cds_end": null,
"cds_length": 4725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.133T>G",
"hgvs_p": null,
"transcript": "ENST00000461311.1",
"protein_id": "ENSP00000452184.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461311.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.151T>G",
"hgvs_p": null,
"transcript": "ENST00000476163.5",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476163.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.19T>G",
"hgvs_p": null,
"transcript": "ENST00000482934.1",
"protein_id": "ENSP00000451443.1",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482934.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.*77T>G",
"hgvs_p": null,
"transcript": "ENST00000486138.2",
"protein_id": "ENSP00000452505.2",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486138.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.161T>G",
"hgvs_p": null,
"transcript": "ENST00000490738.5",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490738.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.154T>G",
"hgvs_p": null,
"transcript": "ENST00000700414.1",
"protein_id": "ENSP00000514978.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.85T>G",
"hgvs_p": null,
"transcript": "ENST00000700418.1",
"protein_id": "ENSP00000514982.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.64T>G",
"hgvs_p": null,
"transcript": "ENST00000700444.1",
"protein_id": "ENSP00000514992.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.161T>G",
"hgvs_p": null,
"transcript": "NR_038934.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038934.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.161T>G",
"hgvs_p": null,
"transcript": "NR_146202.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146202.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.161T>G",
"hgvs_p": null,
"transcript": "NR_146203.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146203.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.161T>G",
"hgvs_p": null,
"transcript": "NR_146204.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146204.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.231T>G",
"hgvs_p": null,
"transcript": "XR_001737062.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001737062.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.231T>G",
"hgvs_p": null,
"transcript": "XR_001737064.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001737064.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.231T>G",
"hgvs_p": null,
"transcript": "XR_007057950.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007057950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.*77T>G",
"hgvs_p": null,
"transcript": "ENST00000486138.2",
"protein_id": "ENSP00000452505.2",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486138.2"
}
],
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"dbsnp": "rs879255532",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5771135091781616,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.283,
"revel_prediction": "Benign",
"alphamissense_score": 0.9475,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.878,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015215.4",
"gene_symbol": "CAMTA1",
"hgnc_id": 18806,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}