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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: 22-50247706-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50247706&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50247706,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032019.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Met470Val",
"transcript": "NM_032019.6",
"protein_id": "NP_114408.3",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 669,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216271.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032019.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Met470Val",
"transcript": "ENST00000216271.10",
"protein_id": "ENSP00000216271.5",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 669,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032019.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216271.10"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Met450Val",
"transcript": "ENST00000349505.4",
"protein_id": "ENSP00000343540.4",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 649,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349505.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "n.*929A>G",
"hgvs_p": null,
"transcript": "ENST00000415993.5",
"protein_id": "ENSP00000397517.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000415993.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "n.671A>G",
"hgvs_p": null,
"transcript": "ENST00000475965.1",
"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": "ENST00000475965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "n.*929A>G",
"hgvs_p": null,
"transcript": "ENST00000415993.5",
"protein_id": "ENSP00000397517.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000415993.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "n.*606+184A>G",
"hgvs_p": null,
"transcript": "ENST00000429374.5",
"protein_id": "ENSP00000407640.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000429374.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Met470Val",
"transcript": "ENST00000895908.1",
"protein_id": "ENSP00000565967.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 668,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895908.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Met470Val",
"transcript": "ENST00000895903.1",
"protein_id": "ENSP00000565962.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 664,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895903.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1384A>G",
"hgvs_p": "p.Met462Val",
"transcript": "ENST00000895906.1",
"protein_id": "ENSP00000565965.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 661,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895906.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Met458Val",
"transcript": "ENST00000895900.1",
"protein_id": "ENSP00000565959.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 657,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895900.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Met450Val",
"transcript": "NM_001159286.2",
"protein_id": "NP_001152758.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 649,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159286.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1342A>G",
"hgvs_p": "p.Met448Val",
"transcript": "ENST00000895901.1",
"protein_id": "ENSP00000565960.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 647,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895901.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "ENST00000895907.1",
"protein_id": "ENSP00000565966.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 637,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895907.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"transcript": "ENST00000948609.1",
"protein_id": "ENSP00000618668.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 631,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948609.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Met428Val",
"transcript": "ENST00000895902.1",
"protein_id": "ENSP00000565961.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 627,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895902.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Met424Val",
"transcript": "ENST00000895905.1",
"protein_id": "ENSP00000565964.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 623,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895905.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1258A>G",
"hgvs_p": "p.Met420Val",
"transcript": "ENST00000448072.5",
"protein_id": "ENSP00000397542.1",
"transcript_support_level": 5,
"aa_start": 420,
"aa_end": null,
"aa_length": 619,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448072.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.1213A>G",
"hgvs_p": "p.Met405Val",
"transcript": "ENST00000895904.1",
"protein_id": "ENSP00000565963.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 604,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895904.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Met333Val",
"transcript": "ENST00000948608.1",
"protein_id": "ENSP00000618667.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 532,
"cds_start": 997,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "n.837A>G",
"hgvs_p": null,
"transcript": "ENST00000476310.5",
"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": "retained_intron",
"feature": "ENST00000476310.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC10",
"gene_hgnc_id": 18128,
"hgvs_c": "n.1043A>G",
"hgvs_p": null,
"transcript": "ENST00000477814.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000477814.5"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": false,
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"biotype": "pseudogene",
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{
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{
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"feature": "ENST00000497952.5"
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{
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"strand": false,
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{
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"feature": "ENST00000626012.2"
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{
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"strand": false,
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{
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"consequences": [
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],
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"gene_symbol": "HDAC10",
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{
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"strand": false,
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],
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"gene_symbol": "HDAC10",
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{
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"intron_variant"
],
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"gene_symbol": "HDAC10",
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"transcript": "ENST00000496235.5",
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"feature": "ENST00000496235.5"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "HDAC10",
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"transcript": "ENST00000470378.1",
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"biotype": "retained_intron",
"feature": "ENST00000470378.1"
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],
"gene_symbol": "HDAC10",
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"dbsnp": "rs1408169931",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13238126039505005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.1197,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.567,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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_032019.6",
"gene_symbol": "HDAC10",
"hgnc_id": 18128,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Met470Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000497036.5",
"gene_symbol": "MAPK12",
"hgnc_id": 6874,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5680A>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
}