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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: 16-72787445-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72787445&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 72787445,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006885.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"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.10831C>T",
"hgvs_p": "p.His3611Tyr",
"transcript": "NM_006885.4",
"protein_id": "NP_008816.3",
"transcript_support_level": null,
"aa_start": 3611,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10831,
"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": "H",
"aa_alt": "Y",
"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.10831C>T",
"hgvs_p": "p.His3611Tyr",
"transcript": "ENST00000268489.10",
"protein_id": "ENSP00000268489.5",
"transcript_support_level": 1,
"aa_start": 3611,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10831,
"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": "H",
"aa_alt": "Y",
"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.8089C>T",
"hgvs_p": "p.His2697Tyr",
"transcript": "ENST00000397992.5",
"protein_id": "ENSP00000438926.3",
"transcript_support_level": 1,
"aa_start": 2697,
"aa_end": null,
"aa_length": 2789,
"cds_start": 8089,
"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": "H",
"aa_alt": "Y",
"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.10831C>T",
"hgvs_p": "p.His3611Tyr",
"transcript": "NM_001386735.1",
"protein_id": "NP_001373664.1",
"transcript_support_level": null,
"aa_start": 3611,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10831,
"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": "H",
"aa_alt": "Y",
"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.10831C>T",
"hgvs_p": "p.His3611Tyr",
"transcript": "ENST00000641206.2",
"protein_id": "ENSP00000493252.1",
"transcript_support_level": null,
"aa_start": 3611,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10831,
"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": "H",
"aa_alt": "Y",
"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.8089C>T",
"hgvs_p": "p.His2697Tyr",
"transcript": "NM_001164766.2",
"protein_id": "NP_001158238.1",
"transcript_support_level": null,
"aa_start": 2697,
"aa_end": null,
"aa_length": 2789,
"cds_start": 8089,
"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": "H",
"aa_alt": "Y",
"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.10831C>T",
"hgvs_p": "p.His3611Tyr",
"transcript": "XM_047434165.1",
"protein_id": "XP_047290121.1",
"transcript_support_level": null,
"aa_start": 3611,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10831,
"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": "H",
"aa_alt": "Y",
"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.10831C>T",
"hgvs_p": "p.His3611Tyr",
"transcript": "XM_047434166.1",
"protein_id": "XP_047290122.1",
"transcript_support_level": null,
"aa_start": 3611,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10831,
"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": "H",
"aa_alt": "Y",
"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.10831C>T",
"hgvs_p": "p.His3611Tyr",
"transcript": "XM_047434167.1",
"protein_id": "XP_047290123.1",
"transcript_support_level": null,
"aa_start": 3611,
"aa_end": null,
"aa_length": 3703,
"cds_start": 10831,
"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": "H",
"aa_alt": "Y",
"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.10828C>T",
"hgvs_p": "p.His3610Tyr",
"transcript": "XM_047434168.1",
"protein_id": "XP_047290124.1",
"transcript_support_level": null,
"aa_start": 3610,
"aa_end": null,
"aa_length": 3702,
"cds_start": 10828,
"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": "H",
"aa_alt": "Y",
"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.8182C>T",
"hgvs_p": "p.His2728Tyr",
"transcript": "XM_017023251.3",
"protein_id": "XP_016878740.1",
"transcript_support_level": null,
"aa_start": 2728,
"aa_end": null,
"aa_length": 2820,
"cds_start": 8182,
"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": "H",
"aa_alt": "Y",
"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.8179C>T",
"hgvs_p": "p.His2727Tyr",
"transcript": "XM_024450291.2",
"protein_id": "XP_024306059.1",
"transcript_support_level": null,
"aa_start": 2727,
"aa_end": null,
"aa_length": 2819,
"cds_start": 8179,
"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": "H",
"aa_alt": "Y",
"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.8179C>T",
"hgvs_p": "p.His2727Tyr",
"transcript": "XM_047434169.1",
"protein_id": "XP_047290125.1",
"transcript_support_level": null,
"aa_start": 2727,
"aa_end": null,
"aa_length": 2819,
"cds_start": 8179,
"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.701G>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.900G>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.770G>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.673G>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.728G>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.828G>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.804G>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.931G>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.547G>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.391-33328G>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+5626G>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.348-33328G>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": "rs200992486",
"frequency_reference_population": 0.0078630345,
"hom_count_reference_population": 78,
"allele_count_reference_population": 12613,
"gnomad_exomes_af": 0.00802958,
"gnomad_genomes_af": 0.00627009,
"gnomad_exomes_ac": 11661,
"gnomad_genomes_ac": 952,
"gnomad_exomes_homalt": 70,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00626710057258606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.07,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006885.4",
"gene_symbol": "ZFHX3",
"hgnc_id": 777,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.10831C>T",
"hgvs_p": "p.His3611Tyr"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000563328.5",
"gene_symbol": "ZFHX3-AS1",
"hgnc_id": 56033,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.701G>A",
"hgvs_p": null
}
],
"clinvar_disease": "ZFHX3-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|ZFHX3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}