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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: 10-127052803-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=127052803&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 127052803,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001290223.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2324T>G",
"hgvs_p": "p.Ile775Ser",
"transcript": "NM_001290223.2",
"protein_id": "NP_001277152.2",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1886,
"cds_start": 2324,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "ENST00000623213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2324T>G",
"hgvs_p": "p.Ile775Ser",
"transcript": "ENST00000623213.2",
"protein_id": "ENSP00000485033.1",
"transcript_support_level": 1,
"aa_start": 775,
"aa_end": null,
"aa_length": 1886,
"cds_start": 2324,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "NM_001290223.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2261T>G",
"hgvs_p": "p.Ile754Ser",
"transcript": "ENST00000280333.9",
"protein_id": "ENSP00000280333.6",
"transcript_support_level": 1,
"aa_start": 754,
"aa_end": null,
"aa_length": 1865,
"cds_start": 2261,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2261T>G",
"hgvs_p": "p.Ile754Ser",
"transcript": "NM_001377543.1",
"protein_id": "NP_001364472.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1919,
"cds_start": 2261,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2297T>G",
"hgvs_p": "p.Ile766Ser",
"transcript": "NM_001377544.1",
"protein_id": "NP_001364473.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1877,
"cds_start": 2297,
"cds_end": null,
"cds_length": 5634,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2261T>G",
"hgvs_p": "p.Ile754Ser",
"transcript": "NM_001380.5",
"protein_id": "NP_001371.2",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1865,
"cds_start": 2261,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2324T>G",
"hgvs_p": "p.Ile775Ser",
"transcript": "NM_001377546.1",
"protein_id": "NP_001364475.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1846,
"cds_start": 2324,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 6720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2198T>G",
"hgvs_p": "p.Ile733Ser",
"transcript": "NM_001377547.1",
"protein_id": "NP_001364476.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1844,
"cds_start": 2198,
"cds_end": null,
"cds_length": 5535,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 6714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2177T>G",
"hgvs_p": "p.Ile726Ser",
"transcript": "NM_001377548.1",
"protein_id": "NP_001364477.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1837,
"cds_start": 2177,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 6693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2162T>G",
"hgvs_p": "p.Ile721Ser",
"transcript": "NM_001377550.1",
"protein_id": "NP_001364479.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1832,
"cds_start": 2162,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2261T>G",
"hgvs_p": "p.Ile754Ser",
"transcript": "NM_001377553.1",
"protein_id": "NP_001364482.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1825,
"cds_start": 2261,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 6657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2108T>G",
"hgvs_p": "p.Ile703Ser",
"transcript": "NM_001377554.1",
"protein_id": "NP_001364483.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1814,
"cds_start": 2108,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 6624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2261T>G",
"hgvs_p": "p.Ile754Ser",
"transcript": "NM_001377556.1",
"protein_id": "NP_001364485.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1800,
"cds_start": 2261,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2108T>G",
"hgvs_p": "p.Ile703Ser",
"transcript": "NM_001377558.1",
"protein_id": "NP_001364487.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1796,
"cds_start": 2108,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.1469T>G",
"hgvs_p": "p.Ile490Ser",
"transcript": "NM_001377560.1",
"protein_id": "NP_001364489.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1601,
"cds_start": 1469,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2324T>G",
"hgvs_p": "p.Ile775Ser",
"transcript": "NM_001377561.1",
"protein_id": "NP_001364490.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2324,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2390T>G",
"hgvs_p": "p.Ile797Ser",
"transcript": "XM_011539422.4",
"protein_id": "XP_011537724.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1908,
"cds_start": 2390,
"cds_end": null,
"cds_length": 5727,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 6845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2327T>G",
"hgvs_p": "p.Ile776Ser",
"transcript": "XM_017015813.3",
"protein_id": "XP_016871302.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1887,
"cds_start": 2327,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 7199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2306T>G",
"hgvs_p": "p.Ile769Ser",
"transcript": "XM_011539424.2",
"protein_id": "XP_011537726.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 1880,
"cds_start": 2306,
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"cds_length": 5643,
"cdna_start": 2321,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2390T>G",
"hgvs_p": "p.Ile797Ser",
"transcript": "XM_017015814.2",
"protein_id": "XP_016871303.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2390,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2327T>G",
"hgvs_p": "p.Ile776Ser",
"transcript": "XM_047424700.1",
"protein_id": "XP_047280656.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2327,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2261T>G",
"hgvs_p": "p.Ile754Ser",
"transcript": "XM_047424701.1",
"protein_id": "XP_047280657.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2261,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
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{
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{
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},
{
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],
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}
],
"gene_symbol": "DOCK1",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5685412883758545,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.917,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001290223.2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ile775Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}