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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: 17-4969648-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4969648&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4969648,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_015099.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3243T>C",
"hgvs_p": "p.Cys1081Cys",
"transcript": "NM_015099.4",
"protein_id": "NP_055914.2",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3390,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "ENST00000348066.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3243T>C",
"hgvs_p": "p.Cys1081Cys",
"transcript": "ENST00000348066.8",
"protein_id": "ENSP00000321813.7",
"transcript_support_level": 1,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3390,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "NM_015099.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3312T>C",
"hgvs_p": "p.Cys1104Cys",
"transcript": "ENST00000414043.7",
"protein_id": "ENSP00000412886.3",
"transcript_support_level": 1,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3466,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3240T>C",
"hgvs_p": "p.Cys1080Cys",
"transcript": "ENST00000361571.9",
"protein_id": "ENSP00000354828.5",
"transcript_support_level": 1,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3240,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3652,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3249T>C",
"hgvs_p": "p.Cys1083Cys",
"transcript": "ENST00000381311.9",
"protein_id": "ENSP00000370712.5",
"transcript_support_level": 1,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3249,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3312T>C",
"hgvs_p": "p.Cys1104Cys",
"transcript": "NM_001171167.2",
"protein_id": "NP_001164638.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3815,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3258T>C",
"hgvs_p": "p.Cys1086Cys",
"transcript": "ENST00000572543.5",
"protein_id": "ENSP00000460779.1",
"transcript_support_level": 5,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3258,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3240T>C",
"hgvs_p": "p.Cys1080Cys",
"transcript": "NM_001171168.2",
"protein_id": "NP_001164639.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3240,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3743,
"cdna_end": null,
"cdna_length": 4868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3249T>C",
"hgvs_p": "p.Cys1083Cys",
"transcript": "NM_001171166.2",
"protein_id": "NP_001164637.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3249,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3327T>C",
"hgvs_p": "p.Cys1109Cys",
"transcript": "XM_011523746.4",
"protein_id": "XP_011522048.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3327,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3830,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3312T>C",
"hgvs_p": "p.Cys1104Cys",
"transcript": "XM_011523747.4",
"protein_id": "XP_011522049.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3815,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3327T>C",
"hgvs_p": "p.Cys1109Cys",
"transcript": "XM_011523748.4",
"protein_id": "XP_011522050.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3327,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3830,
"cdna_end": null,
"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3312T>C",
"hgvs_p": "p.Cys1104Cys",
"transcript": "XM_011523749.4",
"protein_id": "XP_011522051.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 3815,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3258T>C",
"hgvs_p": "p.Cys1086Cys",
"transcript": "XM_006721478.5",
"protein_id": "XP_006721541.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3258,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3405,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.3240T>C",
"hgvs_p": "p.Cys1080Cys",
"transcript": "XM_047435670.1",
"protein_id": "XP_047291626.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3240,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3743,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.2682T>C",
"hgvs_p": "p.Cys894Cys",
"transcript": "XM_006721482.4",
"protein_id": "XP_006721545.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2682,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2762,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.*2824T>C",
"hgvs_p": null,
"transcript": "ENST00000574951.5",
"protein_id": "ENSP00000458560.1",
"transcript_support_level": 5,
"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": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.765T>C",
"hgvs_p": null,
"transcript": "ENST00000576872.1",
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.*2824T>C",
"hgvs_p": null,
"transcript": "ENST00000574951.5",
"protein_id": "ENSP00000458560.1",
"transcript_support_level": 5,
"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": 4431,
"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,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234203",
"gene_hgnc_id": null,
"hgvs_c": "n.27+1372A>G",
"hgvs_p": null,
"transcript": "ENST00000430920.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.-233T>C",
"hgvs_p": null,
"transcript": "ENST00000574442.1",
"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": 764,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6864",
"gene_hgnc_id": 50226,
"hgvs_c": "n.*54T>C",
"hgvs_p": null,
"transcript": "ENST00000617935.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 70,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6864",
"gene_hgnc_id": 50226,
"hgvs_c": "n.*54T>C",
"hgvs_p": null,
"transcript": "NR_106924.1",
"protein_id": null,
"transcript_support_level": null,
"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": 70,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6864",
"gene_hgnc_id": 50226,
"hgvs_c": "n.*54T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_2925",
"protein_id": null,
"transcript_support_level": null,
"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": 21,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6864",
"gene_hgnc_id": 50226,
"hgvs_c": "n.*95T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_2926",
"protein_id": null,
"transcript_support_level": null,
"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": 24,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"dbsnp": null,
"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": -0.6600000262260437,
"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": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.046,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_015099.4",
"gene_symbol": "CAMTA2",
"hgnc_id": 18807,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3243T>C",
"hgvs_p": "p.Cys1081Cys"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000430920.2",
"gene_symbol": "ENSG00000234203",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.27+1372A>G",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_106924.1",
"gene_symbol": "MIR6864",
"hgnc_id": 50226,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*54T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}