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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: 1-62561628-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62561628&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 62561628,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001367561.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "NM_001367561.1",
"protein_id": "NP_001354490.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 2140,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 7233,
"mane_select": "ENST00000635253.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "ENST00000635253.2",
"protein_id": "ENSP00000489124.1",
"transcript_support_level": 5,
"aa_start": 730,
"aa_end": null,
"aa_length": 2140,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 7233,
"mane_select": "NM_001367561.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "ENST00000454575.6",
"protein_id": "ENSP00000413583.2",
"transcript_support_level": 1,
"aa_start": 730,
"aa_end": null,
"aa_length": 2129,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6390,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "NM_001330614.2",
"protein_id": "NP_001317543.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 2131,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "ENST00000251157.10",
"protein_id": "ENSP00000251157.6",
"transcript_support_level": 5,
"aa_start": 730,
"aa_end": null,
"aa_length": 2131,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "NM_001271999.2",
"protein_id": "NP_001258928.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 2129,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6390,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 7200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "NM_033407.4",
"protein_id": "NP_212132.2",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 2109,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 7140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "ENST00000340370.10",
"protein_id": "ENSP00000340742.5",
"transcript_support_level": 2,
"aa_start": 730,
"aa_end": null,
"aa_length": 2109,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 6731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "NM_001272000.2",
"protein_id": "NP_001258929.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 2100,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 7113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "ENST00000634264.1",
"protein_id": "ENSP00000489284.1",
"transcript_support_level": 5,
"aa_start": 730,
"aa_end": null,
"aa_length": 2100,
"cds_start": 2188,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "NM_001272001.2",
"protein_id": "NP_001258930.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 2098,
"cds_start": 2188,
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"cdna_start": 2310,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 19,
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"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "DOCK7",
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"hgvs_p": "p.Ile730Val",
"transcript": "ENST00000635123.1",
"protein_id": "ENSP00000489499.1",
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "DOCK7",
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"hgvs_p": "p.Ile14Val",
"transcript": "ENST00000634929.1",
"protein_id": "ENSP00000489037.1",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 253,
"cds_start": 40,
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"cdna_start": 42,
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "DOCK7",
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},
{
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],
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"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "XM_011542327.3",
"protein_id": "XP_011540629.1",
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"aa_start": 730,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
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],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
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"hgvs_p": "p.Ile730Val",
"transcript": "XM_011542328.3",
"protein_id": "XP_011540630.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "XM_047432964.1",
"protein_id": "XP_047288920.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "XM_017002639.2",
"protein_id": "XP_016858128.1",
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"aa_start": 730,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 19,
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"intron_rank": null,
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"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
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"hgvs_p": "p.Ile730Val",
"transcript": "XM_047432966.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
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"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "XM_047432967.1",
"protein_id": "XP_047288923.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "XM_017002640.2",
"protein_id": "XP_016858129.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1863,
"cds_start": 2188,
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"cdna_start": 2310,
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"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val",
"transcript": "XM_011542330.3",
"protein_id": "XP_011540632.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1844,
"cds_start": 2188,
"cds_end": null,
"cds_length": 5535,
"cdna_start": 2310,
"cdna_end": 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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.*308A>G",
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"transcript": "ENST00000634223.1",
"protein_id": "ENSP00000488988.1",
"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": 681,
"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": 18,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.*308A>G",
"hgvs_p": null,
"transcript": "ENST00000637208.1",
"protein_id": "ENSP00000490079.1",
"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,
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"cdna_length": 8283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.*308A>G",
"hgvs_p": null,
"transcript": "ENST00000634223.1",
"protein_id": "ENSP00000488988.1",
"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": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.*308A>G",
"hgvs_p": null,
"transcript": "ENST00000637208.1",
"protein_id": "ENSP00000490079.1",
"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": 8283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"dbsnp": "rs747262593",
"frequency_reference_population": 0.000024912646,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000254713,
"gnomad_genomes_af": 0.0000197221,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03453022241592407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.935,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001367561.1",
"gene_symbol": "DOCK7",
"hgnc_id": 19190,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2188A>G",
"hgvs_p": "p.Ile730Val"
}
],
"clinvar_disease": " 23,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Developmental and epileptic encephalopathy, 23|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}