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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: 5-141621523-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141621523&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141621523,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003883.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Asn411Ser",
"transcript": "NM_003883.4",
"protein_id": "NP_003874.2",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 428,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305264.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003883.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Asn411Ser",
"transcript": "ENST00000305264.8",
"protein_id": "ENSP00000302967.3",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 428,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003883.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305264.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "n.1305A>G",
"hgvs_p": null,
"transcript": "ENST00000469550.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000469550.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "ENST00000937593.1",
"protein_id": "ENSP00000607652.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 436,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937593.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Asn416Ser",
"transcript": "ENST00000856306.1",
"protein_id": "ENSP00000526365.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 433,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856306.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1244A>G",
"hgvs_p": "p.Asn415Ser",
"transcript": "ENST00000940960.1",
"protein_id": "ENSP00000611019.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 432,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940960.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1229A>G",
"hgvs_p": "p.Asn410Ser",
"transcript": "ENST00000940958.1",
"protein_id": "ENSP00000611017.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 427,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940958.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1223A>G",
"hgvs_p": "p.Asn408Ser",
"transcript": "ENST00000856307.1",
"protein_id": "ENSP00000526366.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 425,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856307.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asn405Ser",
"transcript": "ENST00000937591.1",
"protein_id": "ENSP00000607650.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 422,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937591.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1193A>G",
"hgvs_p": "p.Asn398Ser",
"transcript": "ENST00000937592.1",
"protein_id": "ENSP00000607651.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 415,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937592.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Asn393Ser",
"transcript": "ENST00000937590.1",
"protein_id": "ENSP00000607649.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 410,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937590.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1175A>G",
"hgvs_p": "p.Asn392Ser",
"transcript": "ENST00000940957.1",
"protein_id": "ENSP00000611016.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 409,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940957.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Asn381Ser",
"transcript": "ENST00000856308.1",
"protein_id": "ENSP00000526367.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 398,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856308.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Asn378Ser",
"transcript": "ENST00000940959.1",
"protein_id": "ENSP00000611018.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 395,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940959.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asn346Ser",
"transcript": "ENST00000937595.1",
"protein_id": "ENSP00000607654.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 363,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937595.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000937594.1",
"protein_id": "ENSP00000607653.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 334,
"cds_start": 950,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937594.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "NM_001355040.2",
"protein_id": "NP_001341969.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 275,
"cds_start": 773,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355040.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asn228Ser",
"transcript": "ENST00000856309.1",
"protein_id": "ENSP00000526368.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 245,
"cds_start": 683,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856309.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Asn224Ser",
"transcript": "NM_001355041.2",
"protein_id": "NP_001341970.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 241,
"cds_start": 671,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355041.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "c.311A>G",
"hgvs_p": "p.Asn104Ser",
"transcript": "ENST00000937596.1",
"protein_id": "ENSP00000607655.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 121,
"cds_start": 311,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "n.486A>G",
"hgvs_p": null,
"transcript": "ENST00000459727.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000459727.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HDAC3",
"gene_hgnc_id": 4854,
"hgvs_c": "n.231A>G",
"hgvs_p": null,
"transcript": "ENST00000469207.5",
"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": "ENST00000469207.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"gene_symbol": "HDAC3",
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"biotype": "pseudogene",
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},
{
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"exon_count": 14,
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"feature": "NR_149165.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 13,
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"gene_symbol": "HDAC3",
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"hgvs_c": "n.1089A>G",
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"biotype": "pseudogene",
"feature": "NR_149166.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
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"exon_count": 15,
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"gene_symbol": "HDAC3",
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"hgvs_c": "n.1316A>G",
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"transcript": "NR_149168.2",
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"biotype": "pseudogene",
"feature": "NR_149168.2"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 14,
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"gene_symbol": "HDAC3",
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"feature": "NR_149169.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000228737",
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"hgvs_c": "n.76+3034T>C",
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"transcript": "ENST00000422040.2",
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"biotype": "pseudogene",
"feature": "ENST00000422040.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "ENSG00000228737",
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"hgvs_c": "n.183+3034T>C",
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"transcript": "ENST00000758090.1",
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"biotype": "pseudogene",
"feature": "ENST00000758090.1"
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],
"gene_symbol": "HDAC3",
"gene_hgnc_id": 4854,
"dbsnp": "rs34901743",
"frequency_reference_population": 0.00197087,
"hom_count_reference_population": 70,
"allele_count_reference_population": 3181,
"gnomad_exomes_af": 0.00106518,
"gnomad_genomes_af": 0.0106643,
"gnomad_exomes_ac": 1557,
"gnomad_genomes_ac": 1624,
"gnomad_exomes_homalt": 29,
"gnomad_genomes_homalt": 41,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006567567586898804,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.239,
"revel_prediction": "Benign",
"alphamissense_score": 0.1012,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.093,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003883.4",
"gene_symbol": "HDAC3",
"hgnc_id": 4854,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Asn411Ser"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000422040.2",
"gene_symbol": "ENSG00000228737",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.76+3034T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}