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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: 7-99479691-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99479691&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99479691,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_213603.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "NM_213603.3",
"protein_id": "NP_998768.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 425,
"cds_start": 55,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": "ENST00000331410.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "ENST00000331410.10",
"protein_id": "ENSP00000331927.5",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 425,
"cds_start": 55,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": "NM_213603.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.34T>C",
"hgvs_p": "p.Tyr12His",
"transcript": "ENST00000448667.5",
"protein_id": "ENSP00000405206.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 118,
"cds_start": 34,
"cds_end": null,
"cds_length": 357,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.34T>C",
"hgvs_p": "p.Tyr12His",
"transcript": "ENST00000483089.5",
"protein_id": "ENSP00000417227.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 56,
"cds_start": 34,
"cds_end": null,
"cds_length": 171,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.1618T>C",
"hgvs_p": null,
"transcript": "ENST00000465438.1",
"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": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Tyr2His",
"transcript": "NM_001350999.2",
"protein_id": "NP_001337928.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 408,
"cds_start": 4,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "NM_001351000.2",
"protein_id": "NP_001337929.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 387,
"cds_start": 55,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "NM_001351001.2",
"protein_id": "NP_001337930.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 63,
"cds_start": 55,
"cds_end": null,
"cds_length": 192,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "NM_001013258.2",
"protein_id": "NP_001013276.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 62,
"cds_start": 55,
"cds_end": null,
"cds_length": 189,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "ENST00000379724.3",
"protein_id": "ENSP00000369047.3",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 62,
"cds_start": 55,
"cds_end": null,
"cds_length": 189,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.34T>C",
"hgvs_p": "p.Tyr12His",
"transcript": "ENST00000493485.5",
"protein_id": "ENSP00000419500.1",
"transcript_support_level": 4,
"aa_start": 12,
"aa_end": null,
"aa_length": 56,
"cds_start": 34,
"cds_end": null,
"cds_length": 171,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "XM_017012018.2",
"protein_id": "XP_016867507.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 425,
"cds_start": 55,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.34T>C",
"hgvs_p": "p.Tyr12His",
"transcript": "XM_047420226.1",
"protein_id": "XP_047276182.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 418,
"cds_start": 34,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.34T>C",
"hgvs_p": "p.Tyr12His",
"transcript": "XM_047420227.1",
"protein_id": "XP_047276183.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 418,
"cds_start": 34,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.34T>C",
"hgvs_p": "p.Tyr12His",
"transcript": "XM_047420228.1",
"protein_id": "XP_047276184.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 418,
"cds_start": 34,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "XM_047420231.1",
"protein_id": "XP_047276187.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 63,
"cds_start": 55,
"cds_end": null,
"cds_length": 192,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.34T>C",
"hgvs_p": null,
"transcript": "ENST00000447047.6",
"protein_id": "ENSP00000401255.2",
"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": 842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.272T>C",
"hgvs_p": null,
"transcript": "ENST00000468705.1",
"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": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.198T>C",
"hgvs_p": null,
"transcript": "ENST00000481472.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.274T>C",
"hgvs_p": null,
"transcript": "ENST00000488485.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1884,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF394",
"gene_hgnc_id": 18832,
"hgvs_c": "n.2660A>G",
"hgvs_p": null,
"transcript": "ENST00000651364.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.359T>C",
"hgvs_p": null,
"transcript": "NR_147001.2",
"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": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.276T>C",
"hgvs_p": null,
"transcript": "NR_147002.2",
"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,
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},
{
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"protein_coding": false,
"strand": true,
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},
{
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},
{
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],
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"gene_symbol": "ZNF789",
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},
{
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"strand": true,
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"5_prime_UTR_variant"
],
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"gene_symbol": "ZNF789",
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"hgvs_c": "c.-791T>C",
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"transcript": "XM_017012022.2",
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},
{
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],
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"transcript": "XM_047420229.1",
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},
{
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],
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"gene_symbol": "ZNF789",
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"transcript": "XM_024446725.2",
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},
{
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"gene_symbol": "ZNF789",
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"hgvs_c": "c.-4002T>C",
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"transcript": "XM_047420230.1",
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"feature": null
}
],
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"dbsnp": "rs751579424",
"frequency_reference_population": 0.000027937089,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000301676,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10723474621772766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.49,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.312,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_213603.3",
"gene_symbol": "ZNF789",
"hgnc_id": 27801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651364.1",
"gene_symbol": "ZNF394",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.2660A>G",
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}
],
"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
}