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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: X-12716641-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=12716641&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 12716641,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001368395.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2182G>C",
"hgvs_p": "p.Ala728Pro",
"transcript": "NM_001368397.1",
"protein_id": "NP_001355326.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1762,
"cds_start": 2182,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675598.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368397.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2182G>C",
"hgvs_p": "p.Ala728Pro",
"transcript": "ENST00000675598.1",
"protein_id": "ENSP00000502607.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1762,
"cds_start": 2182,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001368397.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675598.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2182G>C",
"hgvs_p": "p.Ala728Pro",
"transcript": "ENST00000380682.5",
"protein_id": "ENSP00000370057.1",
"transcript_support_level": 1,
"aa_start": 728,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2182,
"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": "ENST00000380682.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Ala765Pro",
"transcript": "NM_001368395.3",
"protein_id": "NP_001355324.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1799,
"cds_start": 2293,
"cds_end": null,
"cds_length": 5400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368395.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2236G>C",
"hgvs_p": "p.Ala746Pro",
"transcript": "ENST00000656302.1",
"protein_id": "ENSP00000499481.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1780,
"cds_start": 2236,
"cds_end": null,
"cds_length": 5343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656302.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Ala730Pro",
"transcript": "NM_001368396.3",
"protein_id": "NP_001355325.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1764,
"cds_start": 2188,
"cds_end": null,
"cds_length": 5295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368396.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Ala765Pro",
"transcript": "NM_001368398.3",
"protein_id": "NP_001355327.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2293,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368398.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2236G>C",
"hgvs_p": "p.Ala746Pro",
"transcript": "ENST00000640291.2",
"protein_id": "ENSP00000492353.2",
"transcript_support_level": 5,
"aa_start": 746,
"aa_end": null,
"aa_length": 1340,
"cds_start": 2236,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640291.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2236G>C",
"hgvs_p": "p.Ala746Pro",
"transcript": "ENST00000672869.2",
"protein_id": "ENSP00000500566.2",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1338,
"cds_start": 2236,
"cds_end": null,
"cds_length": 4018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672869.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2182G>C",
"hgvs_p": "p.Ala728Pro",
"transcript": "NM_014728.3",
"protein_id": "NP_055543.2",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2182,
"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": "NM_014728.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Ala725Pro",
"transcript": "NM_001368399.3",
"protein_id": "NP_001355328.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2173,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368399.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Ala725Pro",
"transcript": "ENST00000672010.1",
"protein_id": "ENSP00000499962.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2173,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672010.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2158G>C",
"hgvs_p": "p.Ala720Pro",
"transcript": "NM_001368401.1",
"protein_id": "NP_001355330.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1314,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368401.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2158G>C",
"hgvs_p": "p.Ala720Pro",
"transcript": "NM_001368402.3",
"protein_id": "NP_001355331.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1314,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368402.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2062G>C",
"hgvs_p": "p.Ala688Pro",
"transcript": "NM_001368400.3",
"protein_id": "NP_001355329.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1282,
"cds_start": 2062,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368400.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2062G>C",
"hgvs_p": "p.Ala688Pro",
"transcript": "ENST00000616992.2",
"protein_id": "ENSP00000482182.2",
"transcript_support_level": 5,
"aa_start": 688,
"aa_end": null,
"aa_length": 1282,
"cds_start": 2062,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616992.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2158G>C",
"hgvs_p": "p.Ala720Pro",
"transcript": "ENST00000657176.2",
"protein_id": "ENSP00000499417.2",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 893,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000657176.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2182G>C",
"hgvs_p": "p.Ala728Pro",
"transcript": "XM_005274632.4",
"protein_id": "XP_005274689.3",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1762,
"cds_start": 2182,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274632.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Ala725Pro",
"transcript": "XM_017029983.2",
"protein_id": "XP_016885472.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1759,
"cds_start": 2173,
"cds_end": null,
"cds_length": 5280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029983.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2092G>C",
"hgvs_p": "p.Ala698Pro",
"transcript": "XM_017029984.2",
"protein_id": "XP_016885473.2",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1732,
"cds_start": 2092,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029984.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2182G>C",
"hgvs_p": "p.Ala728Pro",
"transcript": "XM_017029985.2",
"protein_id": "XP_016885474.2",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2182,
"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_017029985.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.2083G>C",
"hgvs_p": "p.Ala695Pro",
"transcript": "XM_047442680.1",
"protein_id": "XP_047298636.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1289,
"cds_start": 2083,
"cds_end": null,
"cds_length": 3870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "n.2379G>C",
"hgvs_p": null,
"transcript": "ENST00000657982.1",
"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": "ENST00000657982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "n.2835G>C",
"hgvs_p": null,
"transcript": "ENST00000673271.2",
"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": "ENST00000673271.2"
}
],
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"dbsnp": "rs750615873",
"frequency_reference_population": 0.0000115896055,
"hom_count_reference_population": 5,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.0000118579,
"gnomad_genomes_af": 0.00000895584,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04132893681526184,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0723,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.35,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001368395.3",
"gene_symbol": "FRMPD4",
"hgnc_id": 29007,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Ala765Pro"
}
],
"clinvar_disease": " X-linked 104,Inborn genetic diseases,Intellectual disability",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Inborn genetic diseases|Intellectual disability, X-linked 104",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}