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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: 2-182928117-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182928117&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 182928117,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_205842.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3180G>A",
"hgvs_p": "p.Ala1060Ala",
"transcript": "NM_013436.5",
"protein_id": "NP_038464.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3180,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361354.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013436.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3180G>A",
"hgvs_p": "p.Ala1060Ala",
"transcript": "ENST00000361354.9",
"protein_id": "ENSP00000355348.3",
"transcript_support_level": 1,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3180,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013436.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361354.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3198G>A",
"hgvs_p": "p.Ala1066Ala",
"transcript": "ENST00000360982.2",
"protein_id": "ENSP00000354251.2",
"transcript_support_level": 1,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3198,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360982.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3198G>A",
"hgvs_p": "p.Ala1066Ala",
"transcript": "NM_205842.3",
"protein_id": "NP_995314.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3198,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205842.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3195G>A",
"hgvs_p": "p.Ala1065Ala",
"transcript": "ENST00000888539.1",
"protein_id": "ENSP00000558598.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3195,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888539.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3192G>A",
"hgvs_p": "p.Ala1064Ala",
"transcript": "NM_001437267.1",
"protein_id": "NP_001424196.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3192,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437267.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3192G>A",
"hgvs_p": "p.Ala1064Ala",
"transcript": "ENST00000703824.1",
"protein_id": "ENSP00000515489.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3192,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703824.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Ala1058Ala",
"transcript": "NM_001437266.1",
"protein_id": "NP_001424195.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437266.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Ala1058Ala",
"transcript": "ENST00000703825.1",
"protein_id": "ENSP00000515490.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703825.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Ala1058Ala",
"transcript": "ENST00000939370.1",
"protein_id": "ENSP00000609429.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939370.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Ala1058Ala",
"transcript": "ENST00000939372.1",
"protein_id": "ENSP00000609431.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939372.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3159G>A",
"hgvs_p": "p.Ala1053Ala",
"transcript": "ENST00000966159.1",
"protein_id": "ENSP00000636218.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3159,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966159.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3123G>A",
"hgvs_p": "p.Ala1041Ala",
"transcript": "ENST00000888538.1",
"protein_id": "ENSP00000558597.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3123,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888538.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3117G>A",
"hgvs_p": "p.Ala1039Ala",
"transcript": "ENST00000966167.1",
"protein_id": "ENSP00000636226.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3117,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966167.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3081G>A",
"hgvs_p": "p.Ala1027Ala",
"transcript": "ENST00000888537.1",
"protein_id": "ENSP00000558596.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3081,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888537.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Ala1023Ala",
"transcript": "ENST00000888541.1",
"protein_id": "ENSP00000558600.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888541.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3054G>A",
"hgvs_p": "p.Ala1018Ala",
"transcript": "ENST00000966160.1",
"protein_id": "ENSP00000636219.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966160.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3042G>A",
"hgvs_p": "p.Ala1014Ala",
"transcript": "ENST00000888540.1",
"protein_id": "ENSP00000558599.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3042,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888540.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3036G>A",
"hgvs_p": "p.Ala1012Ala",
"transcript": "ENST00000966162.1",
"protein_id": "ENSP00000636221.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1080,
"cds_start": 3036,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966162.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2961G>A",
"hgvs_p": "p.Ala987Ala",
"transcript": "ENST00000888536.1",
"protein_id": "ENSP00000558595.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2961,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888536.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2901G>A",
"hgvs_p": "p.Ala967Ala",
"transcript": "ENST00000966166.1",
"protein_id": "ENSP00000636225.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2901,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966166.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"synonymous_variant"
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"exon_rank": 27,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966169.1"
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
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"hgvs_p": "p.Ala932Ala",
"transcript": "ENST00000966165.1",
"protein_id": "ENSP00000636224.1",
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"aa_start": 932,
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"aa_length": 1000,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000966165.1"
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
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"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "NCKAP1",
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"hgvs_c": "c.2781G>A",
"hgvs_p": "p.Ala927Ala",
"transcript": "ENST00000939373.1",
"protein_id": "ENSP00000609432.1",
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"aa_start": 927,
"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939373.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 21,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "NCKAP1",
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"hgvs_c": "c.2061G>A",
"hgvs_p": "p.Ala687Ala",
"transcript": "ENST00000939371.1",
"protein_id": "ENSP00000609430.1",
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"aa_start": 687,
"aa_end": null,
"aa_length": 755,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939371.1"
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "NCKAP1",
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"hgvs_c": "c.1917G>A",
"hgvs_p": "p.Ala639Ala",
"transcript": "ENST00000966163.1",
"protein_id": "ENSP00000636222.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 707,
"cds_start": 1917,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966163.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "NCKAP1",
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"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"transcript": "ENST00000966164.1",
"protein_id": "ENSP00000636223.1",
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"aa_start": 266,
"aa_end": null,
"aa_length": 334,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966164.1"
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
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"exon_count": 7,
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"gene_symbol": "NCKAP1",
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"hgvs_c": "c.540G>A",
"hgvs_p": "p.Ala180Ala",
"transcript": "ENST00000966161.1",
"protein_id": "ENSP00000636220.1",
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"aa_start": 180,
"aa_end": null,
"aa_length": 248,
"cds_start": 540,
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"biotype": "protein_coding",
"feature": "ENST00000966161.1"
},
{
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"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
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"gene_symbol": "NCKAP1",
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"hgvs_c": "c.429G>A",
"hgvs_p": "p.Ala143Ala",
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"protein_id": "ENSP00000636227.1",
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"aa_start": 143,
"aa_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000966168.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 7,
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"gene_symbol": "NCKAP1",
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"hgvs_c": "n.*2G>A",
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"transcript": "ENST00000478449.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000478449.5"
}
],
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"dbsnp": "rs761671233",
"frequency_reference_population": 0.000005047357,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000488449,
"gnomad_genomes_af": 0.00000658415,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.8519999980926514,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.135,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.991003655362863,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_205842.3",
"gene_symbol": "NCKAP1",
"hgnc_id": 7666,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3198G>A",
"hgvs_p": "p.Ala1066Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}