← Back to variant description
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: 9-449874-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=449874&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 449874,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000432829.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5908G>A",
"hgvs_p": "p.Ala1970Thr",
"transcript": "NM_203447.4",
"protein_id": "NP_982272.2",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 2099,
"cds_start": 5908,
"cds_end": null,
"cds_length": 6300,
"cdna_start": 6020,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": "ENST00000432829.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5908G>A",
"hgvs_p": "p.Ala1970Thr",
"transcript": "ENST00000432829.7",
"protein_id": "ENSP00000394888.3",
"transcript_support_level": 1,
"aa_start": 1970,
"aa_end": null,
"aa_length": 2099,
"cds_start": 5908,
"cds_end": null,
"cds_length": 6300,
"cdna_start": 6020,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": "NM_203447.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5608G>A",
"hgvs_p": "p.Ala1870Thr",
"transcript": "ENST00000469391.5",
"protein_id": "ENSP00000419438.1",
"transcript_support_level": 1,
"aa_start": 1870,
"aa_end": null,
"aa_length": 1999,
"cds_start": 5608,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 5687,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5608G>A",
"hgvs_p": "p.Ala1870Thr",
"transcript": "ENST00000382329.2",
"protein_id": "ENSP00000371766.2",
"transcript_support_level": 1,
"aa_start": 1870,
"aa_end": null,
"aa_length": 1936,
"cds_start": 5608,
"cds_end": null,
"cds_length": 5811,
"cdna_start": 6005,
"cdna_end": null,
"cdna_length": 6538,
"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": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.7863G>A",
"hgvs_p": null,
"transcript": "ENST00000495184.5",
"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": 9277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "NM_001193536.2",
"protein_id": "NP_001180465.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5704,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 5807,
"cdna_end": null,
"cdna_length": 7235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "ENST00000453981.5",
"protein_id": "ENSP00000408464.2",
"transcript_support_level": 5,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5704,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 5805,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5608G>A",
"hgvs_p": "p.Ala1870Thr",
"transcript": "NM_001190458.2",
"protein_id": "NP_001177387.1",
"transcript_support_level": null,
"aa_start": 1870,
"aa_end": null,
"aa_length": 1999,
"cds_start": 5608,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 5711,
"cdna_end": null,
"cdna_length": 7139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5809G>A",
"hgvs_p": "p.Ala1937Thr",
"transcript": "XM_047423931.1",
"protein_id": "XP_047279887.1",
"transcript_support_level": null,
"aa_start": 1937,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5809,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 5961,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5809G>A",
"hgvs_p": "p.Ala1937Thr",
"transcript": "XM_047423932.1",
"protein_id": "XP_047279888.1",
"transcript_support_level": null,
"aa_start": 1937,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5809,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 6270,
"cdna_end": null,
"cdna_length": 6784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5770G>A",
"hgvs_p": "p.Ala1924Thr",
"transcript": "XM_047423934.1",
"protein_id": "XP_047279890.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2055,
"cds_start": 5770,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 5922,
"cdna_end": null,
"cdna_length": 6436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5770G>A",
"hgvs_p": "p.Ala1924Thr",
"transcript": "XM_011518046.3",
"protein_id": "XP_011516348.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2053,
"cds_start": 5770,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 5922,
"cdna_end": null,
"cdna_length": 7350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "XM_047423927.1",
"protein_id": "XP_047279883.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5704,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 5915,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "XM_047423928.1",
"protein_id": "XP_047279884.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5704,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 5917,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "XM_047423935.1",
"protein_id": "XP_047279891.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5704,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 5807,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "XM_017015173.2",
"protein_id": "XP_016870662.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5704,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 5915,
"cdna_end": null,
"cdna_length": 7343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "XM_047423929.1",
"protein_id": "XP_047279885.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5704,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 5917,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "XM_047423933.1",
"protein_id": "XP_047279889.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5704,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 5786,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5674G>A",
"hgvs_p": "p.Ala1892Thr",
"transcript": "XM_047423936.1",
"protein_id": "XP_047279892.1",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 2021,
"cds_start": 5674,
"cds_end": null,
"cds_length": 6066,
"cdna_start": 5826,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5608G>A",
"hgvs_p": "p.Ala1870Thr",
"transcript": "XM_047423930.1",
"protein_id": "XP_047279886.1",
"transcript_support_level": null,
"aa_start": 1870,
"aa_end": null,
"aa_length": 2001,
"cds_start": 5608,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 5819,
"cdna_end": null,
"cdna_length": 6333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5608G>A",
"hgvs_p": "p.Ala1870Thr",
"transcript": "XM_047423937.1",
"protein_id": "XP_047279893.1",
"transcript_support_level": null,
"aa_start": 1870,
"aa_end": null,
"aa_length": 2001,
"cds_start": 5608,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 5711,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5608G>A",
"hgvs_p": "p.Ala1870Thr",
"transcript": "XM_011518045.4",
"protein_id": "XP_011516347.1",
"transcript_support_level": null,
"aa_start": 1870,
"aa_end": null,
"aa_length": 1999,
"cds_start": 5608,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 5819,
"cdna_end": null,
"cdna_length": 7247,
"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": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.2383G>A",
"hgvs_p": null,
"transcript": "ENST00000683406.1",
"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": 3811,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.1589G>A",
"hgvs_p": null,
"transcript": "ENST00000684637.1",
"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": 2958,
"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": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.4696G>A",
"hgvs_p": null,
"transcript": "ENST00000685949.1",
"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": 6124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"dbsnp": "rs34908836",
"frequency_reference_population": 6.842182e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84218e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2200492024421692,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.1247,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.615,
"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": 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": "ENST00000432829.7",
"gene_symbol": "DOCK8",
"hgnc_id": 19191,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5908G>A",
"hgvs_p": "p.Ala1970Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}