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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: 16-72787387-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72787387&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 72787387,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006885.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.10889C>T",
"hgvs_p": "p.Pro3630Leu",
"transcript": "NM_006885.4",
"protein_id": "NP_008816.3",
"transcript_support_level": null,
"aa_start": 3630,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10889,
"cds_end": null,
"cds_length": 11112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268489.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006885.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.10889C>T",
"hgvs_p": "p.Pro3630Leu",
"transcript": "ENST00000268489.10",
"protein_id": "ENSP00000268489.5",
"transcript_support_level": 1,
"aa_start": 3630,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10889,
"cds_end": null,
"cds_length": 11112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006885.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268489.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.8147C>T",
"hgvs_p": "p.Pro2716Leu",
"transcript": "ENST00000397992.5",
"protein_id": "ENSP00000438926.3",
"transcript_support_level": 1,
"aa_start": 2716,
"aa_end": null,
"aa_length": 2789,
"cds_start": 8147,
"cds_end": null,
"cds_length": 8370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397992.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.10889C>T",
"hgvs_p": "p.Pro3630Leu",
"transcript": "NM_001386735.1",
"protein_id": "NP_001373664.1",
"transcript_support_level": null,
"aa_start": 3630,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10889,
"cds_end": null,
"cds_length": 11112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386735.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.10889C>T",
"hgvs_p": "p.Pro3630Leu",
"transcript": "ENST00000641206.2",
"protein_id": "ENSP00000493252.1",
"transcript_support_level": null,
"aa_start": 3630,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10889,
"cds_end": null,
"cds_length": 11112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641206.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.8147C>T",
"hgvs_p": "p.Pro2716Leu",
"transcript": "NM_001164766.2",
"protein_id": "NP_001158238.1",
"transcript_support_level": null,
"aa_start": 2716,
"aa_end": null,
"aa_length": 2789,
"cds_start": 8147,
"cds_end": null,
"cds_length": 8370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164766.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.10889C>T",
"hgvs_p": "p.Pro3630Leu",
"transcript": "XM_047434165.1",
"protein_id": "XP_047290121.1",
"transcript_support_level": null,
"aa_start": 3630,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10889,
"cds_end": null,
"cds_length": 11112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434165.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.10889C>T",
"hgvs_p": "p.Pro3630Leu",
"transcript": "XM_047434166.1",
"protein_id": "XP_047290122.1",
"transcript_support_level": null,
"aa_start": 3630,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10889,
"cds_end": null,
"cds_length": 11112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434166.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.10889C>T",
"hgvs_p": "p.Pro3630Leu",
"transcript": "XM_047434167.1",
"protein_id": "XP_047290123.1",
"transcript_support_level": null,
"aa_start": 3630,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10889,
"cds_end": null,
"cds_length": 11112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434167.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.10886C>T",
"hgvs_p": "p.Pro3629Leu",
"transcript": "XM_047434168.1",
"protein_id": "XP_047290124.1",
"transcript_support_level": null,
"aa_start": 3629,
"aa_end": null,
"aa_length": 3702,
"cds_start": 10886,
"cds_end": null,
"cds_length": 11109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434168.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.8240C>T",
"hgvs_p": "p.Pro2747Leu",
"transcript": "XM_017023251.3",
"protein_id": "XP_016878740.1",
"transcript_support_level": null,
"aa_start": 2747,
"aa_end": null,
"aa_length": 2820,
"cds_start": 8240,
"cds_end": null,
"cds_length": 8463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023251.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.8237C>T",
"hgvs_p": "p.Pro2746Leu",
"transcript": "XM_024450291.2",
"protein_id": "XP_024306059.1",
"transcript_support_level": null,
"aa_start": 2746,
"aa_end": null,
"aa_length": 2819,
"cds_start": 8237,
"cds_end": null,
"cds_length": 8460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450291.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"hgvs_c": "c.8237C>T",
"hgvs_p": "p.Pro2746Leu",
"transcript": "XM_047434169.1",
"protein_id": "XP_047290125.1",
"transcript_support_level": null,
"aa_start": 2746,
"aa_end": null,
"aa_length": 2819,
"cds_start": 8237,
"cds_end": null,
"cds_length": 8460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434169.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.643G>A",
"hgvs_p": null,
"transcript": "ENST00000563328.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000563328.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.842G>A",
"hgvs_p": null,
"transcript": "ENST00000692742.2",
"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": "ENST00000692742.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.712G>A",
"hgvs_p": null,
"transcript": "ENST00000692937.3",
"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": "ENST00000692937.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.615G>A",
"hgvs_p": null,
"transcript": "ENST00000700870.2",
"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": "ENST00000700870.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.670G>A",
"hgvs_p": null,
"transcript": "ENST00000702197.2",
"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": "ENST00000702197.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.770G>A",
"hgvs_p": null,
"transcript": "ENST00000766492.1",
"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": "ENST00000766492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.746G>A",
"hgvs_p": null,
"transcript": "ENST00000766493.1",
"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": "ENST00000766493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.873G>A",
"hgvs_p": null,
"transcript": "ENST00000766494.1",
"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": "ENST00000766494.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.489G>A",
"hgvs_p": null,
"transcript": "ENST00000766495.1",
"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": "ENST00000766495.1"
},
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"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.391-33386G>A",
"hgvs_p": null,
"transcript": "NR_171702.1",
"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": "NR_171702.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.439+5568G>A",
"hgvs_p": null,
"transcript": "NR_171703.1",
"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": "NR_171703.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZFHX3-AS1",
"gene_hgnc_id": 56033,
"hgvs_c": "n.348-33386G>A",
"hgvs_p": null,
"transcript": "NR_171704.1",
"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": "NR_171704.1"
}
],
"gene_symbol": "ZFHX3",
"gene_hgnc_id": 777,
"dbsnp": "rs2035439384",
"frequency_reference_population": 6.8767275e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87673e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22999143600463867,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.237,
"revel_prediction": "Benign",
"alphamissense_score": 0.0862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.131,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006885.4",
"gene_symbol": "ZFHX3",
"hgnc_id": 777,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.10889C>T",
"hgvs_p": "p.Pro3630Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000563328.5",
"gene_symbol": "ZFHX3-AS1",
"hgnc_id": 56033,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.643G>A",
"hgvs_p": null
}
],
"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
}