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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: 8-134509746-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=134509746&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 134509746,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000377838.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3365A>G",
"hgvs_p": "p.Asp1122Gly",
"transcript": "NM_020863.4",
"protein_id": "NP_065914.2",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3365,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3533,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": "ENST00000377838.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3365A>G",
"hgvs_p": "p.Asp1122Gly",
"transcript": "ENST00000377838.8",
"protein_id": "ENSP00000367069.3",
"transcript_support_level": 1,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3365,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3533,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": "NM_020863.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "ENST00000520214.5",
"protein_id": "ENSP00000428483.1",
"transcript_support_level": 1,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3470,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "ENST00000520727.5",
"protein_id": "ENSP00000427831.1",
"transcript_support_level": 1,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3629,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3179A>G",
"hgvs_p": "p.Asp1060Gly",
"transcript": "ENST00000523399.5",
"protein_id": "ENSP00000429091.1",
"transcript_support_level": 1,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3179,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3278,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "ENST00000429442.6",
"protein_id": "ENSP00000394501.2",
"transcript_support_level": 1,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 4421,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.728A>G",
"hgvs_p": null,
"transcript": "ENST00000518408.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1552,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.*534A>G",
"hgvs_p": null,
"transcript": "ENST00000523243.5",
"protein_id": "ENSP00000429930.1",
"transcript_support_level": 1,
"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": 4774,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.*534A>G",
"hgvs_p": null,
"transcript": "ENST00000523243.5",
"protein_id": "ENSP00000429930.1",
"transcript_support_level": 1,
"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": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3198+11137A>G",
"hgvs_p": null,
"transcript": "ENST00000520356.5",
"protein_id": "ENSP00000427879.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1145,
"cds_start": -4,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "NM_001029939.4",
"protein_id": "NP_001025110.2",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "NM_001167583.3",
"protein_id": "NP_001161055.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3471,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "NM_001289394.2",
"protein_id": "NP_001276323.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3692,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3179A>G",
"hgvs_p": "p.Asp1060Gly",
"transcript": "NM_001174157.2",
"protein_id": "NP_001167628.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3179,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 4408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.Asp42Gly",
"transcript": "ENST00000521673.5",
"protein_id": "ENSP00000429600.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 163,
"cds_start": 125,
"cds_end": null,
"cds_length": 492,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3365A>G",
"hgvs_p": "p.Asp1122Gly",
"transcript": "XM_047422062.1",
"protein_id": "XP_047278018.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3365,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 17931,
"cdna_end": null,
"cdna_length": 18992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "XM_047422063.1",
"protein_id": "XP_047278019.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3573,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3179A>G",
"hgvs_p": "p.Asp1060Gly",
"transcript": "XM_011517204.3",
"protein_id": "XP_011515506.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3179,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3208,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "XM_011517206.2",
"protein_id": "XP_011515508.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3329,
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"cdna_start": 3471,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3329A>G",
"hgvs_p": "p.Asp1110Gly",
"transcript": "XM_017013716.2",
"protein_id": "XP_016869205.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 3346,
"cdna_end": null,
"cdna_length": 9344,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.391A>G",
"hgvs_p": null,
"transcript": "ENST00000522723.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 436,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.*3347A>G",
"hgvs_p": null,
"transcript": "ENST00000523924.5",
"protein_id": "ENSP00000429050.1",
"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": 4756,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.3699A>G",
"hgvs_p": null,
"transcript": "NR_110323.2",
"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": 4760,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "n.*3347A>G",
"hgvs_p": null,
"transcript": "ENST00000523924.5",
"protein_id": "ENSP00000429050.1",
"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": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"hgvs_c": "c.3198+11137A>G",
"hgvs_p": null,
"transcript": "NM_001174158.2",
"protein_id": "NP_001167629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1145,
"cds_start": -4,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFAT",
"gene_hgnc_id": 19899,
"dbsnp": "rs763409285",
"frequency_reference_population": 0.00002809943,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000282736,
"gnomad_genomes_af": 0.0000264306,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20700952410697937,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.1386,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.454,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377838.8",
"gene_symbol": "ZFAT",
"hgnc_id": 19899,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3365A>G",
"hgvs_p": "p.Asp1122Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}