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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: 7-18496317-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=18496317&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 18496317,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001321896.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_178425.4",
"protein_id": "NP_848512.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1069,
"cds_start": 15,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000686413.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178425.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000686413.1",
"protein_id": "ENSP00000509161.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1069,
"cds_start": 15,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178425.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686413.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000441542.7",
"protein_id": "ENSP00000408617.2",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 1069,
"cds_start": 15,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441542.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000406451.8",
"protein_id": "ENSP00000384657.3",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 1066,
"cds_start": 15,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406451.8"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000401921.5",
"protein_id": "ENSP00000383912.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 1025,
"cds_start": 15,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401921.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000432645.6",
"protein_id": "ENSP00000410337.2",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 1011,
"cds_start": 15,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432645.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000405010.7",
"protein_id": "ENSP00000384382.3",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 590,
"cds_start": 15,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405010.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "n.15C>G",
"hgvs_p": null,
"transcript": "ENST00000523867.5",
"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": "ENST00000523867.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.-138C>G",
"hgvs_p": null,
"transcript": "NM_001321896.2",
"protein_id": "NP_001308825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321896.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.-138C>G",
"hgvs_p": null,
"transcript": "NM_001321887.2",
"protein_id": "NP_001308816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": null,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321887.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.-138C>G",
"hgvs_p": null,
"transcript": "NM_001321886.2",
"protein_id": "NP_001308815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": null,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321886.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.-138C>G",
"hgvs_p": null,
"transcript": "NM_001321889.2",
"protein_id": "NP_001308818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321889.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.-138C>G",
"hgvs_p": null,
"transcript": "ENST00000430454.5",
"protein_id": "ENSP00000411422.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430454.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000935502.1",
"protein_id": "ENSP00000605561.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1067,
"cds_start": 15,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935502.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_178423.3",
"protein_id": "NP_848510.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1066,
"cds_start": 15,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178423.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000868971.1",
"protein_id": "ENSP00000539030.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1066,
"cds_start": 15,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868971.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.81C>G",
"hgvs_p": "p.Ile27Met",
"transcript": "NM_001321868.2",
"protein_id": "NP_001308797.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1044,
"cds_start": 81,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321868.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001321877.2",
"protein_id": "NP_001308806.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1025,
"cds_start": 15,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321877.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001321897.2",
"protein_id": "NP_001308826.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1025,
"cds_start": 15,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321897.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000868968.1",
"protein_id": "ENSP00000539027.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1022,
"cds_start": 15,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868968.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000868970.1",
"protein_id": "ENSP00000539029.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1020,
"cds_start": 15,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868970.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_058176.2",
"protein_id": "NP_478056.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1011,
"cds_start": 15,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"biotype": "protein_coding",
"feature": "ENST00000430454.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"transcript": "ENST00000446646.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446646.1"
},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 17,
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"gene_symbol": "HDAC9",
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461159.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "HDAC9",
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"biotype": "pseudogene",
"feature": "ENST00000461409.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 2,
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"biotype": "pseudogene",
"feature": "ENST00000474742.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "HDAC9",
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"transcript": "ENST00000476135.5",
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"feature": "ENST00000476135.5"
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{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "HDAC9",
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"transcript": "NR_135835.2",
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"biotype": "pseudogene",
"feature": "NR_135835.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"hgvs_c": "c.-433C>G",
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"transcript": "ENST00000441986.5",
"protein_id": "ENSP00000404763.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441986.5"
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],
"gene_symbol": "HDAC9",
"gene_hgnc_id": 14065,
"dbsnp": "rs199565230",
"frequency_reference_population": 0.00012586197,
"hom_count_reference_population": 0,
"allele_count_reference_population": 203,
"gnomad_exomes_af": 0.000134856,
"gnomad_genomes_af": 0.0000394586,
"gnomad_exomes_ac": 197,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1888333559036255,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.1194,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.216,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001321896.2",
"gene_symbol": "HDAC9",
"hgnc_id": 14065,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-138C>G",
"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
}