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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: 16-57759817-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57759817&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57759817,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318710.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "NM_001130100.2",
"protein_id": "NP_001123572.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 826,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445690.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130100.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "ENST00000445690.7",
"protein_id": "ENSP00000401696.2",
"transcript_support_level": 1,
"aa_start": 796,
"aa_end": null,
"aa_length": 826,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130100.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445690.7"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "ENST00000379655.8",
"protein_id": "ENSP00000368976.4",
"transcript_support_level": 1,
"aa_start": 796,
"aa_end": null,
"aa_length": 833,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379655.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Lys",
"transcript": "ENST00000465878.6",
"protein_id": "ENSP00000454659.1",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 687,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465878.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Lys",
"transcript": "ENST00000562903.5",
"protein_id": "ENSP00000456239.1",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 687,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562903.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2654C>A",
"hgvs_p": "p.Thr885Lys",
"transcript": "ENST00000950450.1",
"protein_id": "ENSP00000620509.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 915,
"cds_start": 2654,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950450.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2624C>A",
"hgvs_p": "p.Thr875Lys",
"transcript": "ENST00000950452.1",
"protein_id": "ENSP00000620511.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 905,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950452.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2594C>A",
"hgvs_p": "p.Thr865Lys",
"transcript": "ENST00000874184.1",
"protein_id": "ENSP00000544243.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 895,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874184.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2594C>A",
"hgvs_p": "p.Thr865Lys",
"transcript": "ENST00000950445.1",
"protein_id": "ENSP00000620504.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 895,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950445.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2453C>A",
"hgvs_p": "p.Thr818Lys",
"transcript": "NM_001318710.2",
"protein_id": "NP_001305639.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 848,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318710.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2453C>A",
"hgvs_p": "p.Thr818Lys",
"transcript": "ENST00000541240.5",
"protein_id": "ENSP00000442008.1",
"transcript_support_level": 2,
"aa_start": 818,
"aa_end": null,
"aa_length": 848,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541240.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "NM_005550.4",
"protein_id": "NP_005541.3",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 833,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005550.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "ENST00000874177.1",
"protein_id": "ENSP00000544236.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 826,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874177.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "ENST00000874178.1",
"protein_id": "ENSP00000544237.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 826,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874178.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "ENST00000874179.1",
"protein_id": "ENSP00000544238.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 826,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874179.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "ENST00000874180.1",
"protein_id": "ENSP00000544239.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 826,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874180.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "ENST00000874183.1",
"protein_id": "ENSP00000544242.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 826,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874183.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2387C>A",
"hgvs_p": "p.Thr796Lys",
"transcript": "ENST00000950449.1",
"protein_id": "ENSP00000620508.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 826,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950449.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2375C>A",
"hgvs_p": "p.Thr792Lys",
"transcript": "ENST00000874182.1",
"protein_id": "ENSP00000544241.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 822,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874182.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2357C>A",
"hgvs_p": "p.Thr786Lys",
"transcript": "ENST00000950451.1",
"protein_id": "ENSP00000620510.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 816,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950451.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2339C>A",
"hgvs_p": "p.Thr780Lys",
"transcript": "ENST00000950448.1",
"protein_id": "ENSP00000620507.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 810,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950448.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC3",
"gene_hgnc_id": 6326,
"hgvs_c": "c.2312C>A",
"hgvs_p": "p.Thr771Lys",
"transcript": "ENST00000950446.1",
"protein_id": "ENSP00000620505.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 801,
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
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"gene_symbol": "KIFC3",
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"biotype": "pseudogene",
"feature": "NR_134678.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
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"exon_count": 19,
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"gene_symbol": "KIFC3",
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"transcript": "ENST00000564136.5",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "KIFC3",
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"dbsnp": "rs554025520",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.86409e-7,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04935336112976074,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.1196,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.535,
"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_001318710.2",
"gene_symbol": "KIFC3",
"hgnc_id": 6326,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2453C>A",
"hgvs_p": "p.Thr818Lys"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000613495.1",
"gene_symbol": "ENSG00000276166",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.460G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}