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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: 16-57760832-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57760832&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57760832,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001318710.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "NM_001130100.2",
"protein_id": "NP_001123572.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 826,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "ENST00000445690.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130100.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000445690.7",
"protein_id": "ENSP00000401696.2",
"transcript_support_level": 1,
"aa_start": 709,
"aa_end": null,
"aa_length": 826,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "NM_001130100.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445690.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000379655.8",
"protein_id": "ENSP00000368976.4",
"transcript_support_level": 1,
"aa_start": 709,
"aa_end": null,
"aa_length": 833,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379655.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Ala570Val",
"transcript": "ENST00000465878.6",
"protein_id": "ENSP00000454659.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 687,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465878.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Ala570Val",
"transcript": "ENST00000562903.5",
"protein_id": "ENSP00000456239.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 687,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562903.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2393C>T",
"hgvs_p": "p.Ala798Val",
"transcript": "ENST00000950450.1",
"protein_id": "ENSP00000620509.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 915,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950450.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ala788Val",
"transcript": "ENST00000950452.1",
"protein_id": "ENSP00000620511.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 905,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2477,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950452.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2468C>T",
"hgvs_p": "p.Ala823Val",
"transcript": "ENST00000874184.1",
"protein_id": "ENSP00000544243.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 895,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874184.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2468C>T",
"hgvs_p": "p.Ala823Val",
"transcript": "ENST00000950445.1",
"protein_id": "ENSP00000620504.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 895,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2661,
"cdna_end": null,
"cdna_length": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950445.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2192C>T",
"hgvs_p": "p.Ala731Val",
"transcript": "NM_001318710.2",
"protein_id": "NP_001305639.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 848,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318710.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2192C>T",
"hgvs_p": "p.Ala731Val",
"transcript": "ENST00000541240.5",
"protein_id": "ENSP00000442008.1",
"transcript_support_level": 2,
"aa_start": 731,
"aa_end": null,
"aa_length": 848,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541240.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "NM_005550.4",
"protein_id": "NP_005541.3",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 833,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005550.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000874177.1",
"protein_id": "ENSP00000544236.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 826,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874177.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000874178.1",
"protein_id": "ENSP00000544237.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 826,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874178.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000874179.1",
"protein_id": "ENSP00000544238.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 826,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874179.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000874180.1",
"protein_id": "ENSP00000544239.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 826,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874180.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000874183.1",
"protein_id": "ENSP00000544242.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 826,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874183.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000950449.1",
"protein_id": "ENSP00000620508.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 826,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950449.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2114C>T",
"hgvs_p": "p.Ala705Val",
"transcript": "ENST00000874182.1",
"protein_id": "ENSP00000544241.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 822,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874182.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2096C>T",
"hgvs_p": "p.Ala699Val",
"transcript": "ENST00000950451.1",
"protein_id": "ENSP00000620510.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 816,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950451.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000950448.1",
"protein_id": "ENSP00000620507.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 810,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950448.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2051C>T",
"hgvs_p": "p.Ala684Val",
"transcript": "ENST00000950446.1",
"protein_id": "ENSP00000620505.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 801,
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],
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"exon_count": 19,
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"gene_symbol": "KIFC3",
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"transcript": "ENST00000564136.5",
"protein_id": "ENSP00000458009.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000564136.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "KIFC3",
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"hgvs_c": "n.32+398C>T",
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"transcript": "ENST00000565753.1",
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"transcript_support_level": 5,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 473,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565753.1"
}
],
"gene_symbol": "KIFC3",
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"dbsnp": "rs147963864",
"frequency_reference_population": 0.0000027377196,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273772,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4167063534259796,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.274,
"revel_prediction": "Benign",
"alphamissense_score": 0.1333,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.083,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318710.2",
"gene_symbol": "KIFC3",
"hgnc_id": 6326,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2192C>T",
"hgvs_p": "p.Ala731Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}