← 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: 2-182934830-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182934830&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 182934830,
"ref": "G",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_205842.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2781C>G",
"hgvs_p": "p.Val927Val",
"transcript": "NM_013436.5",
"protein_id": "NP_038464.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2781,
"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": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2781C>G",
"hgvs_p": "p.Val927Val",
"transcript": "ENST00000361354.9",
"protein_id": "ENSP00000355348.3",
"transcript_support_level": 1,
"aa_start": 927,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2781,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2799C>G",
"hgvs_p": "p.Val933Val",
"transcript": "ENST00000360982.2",
"protein_id": "ENSP00000354251.2",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2799,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2799C>G",
"hgvs_p": "p.Val933Val",
"transcript": "NM_205842.3",
"protein_id": "NP_995314.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2799,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2796C>G",
"hgvs_p": "p.Val932Val",
"transcript": "ENST00000888539.1",
"protein_id": "ENSP00000558598.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2796,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2793C>G",
"hgvs_p": "p.Val931Val",
"transcript": "NM_001437267.1",
"protein_id": "NP_001424196.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2793,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2793C>G",
"hgvs_p": "p.Val931Val",
"transcript": "ENST00000703824.1",
"protein_id": "ENSP00000515489.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2793,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2775C>G",
"hgvs_p": "p.Val925Val",
"transcript": "NM_001437266.1",
"protein_id": "NP_001424195.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2775,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2775C>G",
"hgvs_p": "p.Val925Val",
"transcript": "ENST00000703825.1",
"protein_id": "ENSP00000515490.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2775,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2775C>G",
"hgvs_p": "p.Val925Val",
"transcript": "ENST00000939370.1",
"protein_id": "ENSP00000609429.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2775,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2775C>G",
"hgvs_p": "p.Val925Val",
"transcript": "ENST00000939372.1",
"protein_id": "ENSP00000609431.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2775,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2760C>G",
"hgvs_p": "p.Val920Val",
"transcript": "ENST00000966159.1",
"protein_id": "ENSP00000636218.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2760,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2724C>G",
"hgvs_p": "p.Val908Val",
"transcript": "ENST00000888538.1",
"protein_id": "ENSP00000558597.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2724,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2718C>G",
"hgvs_p": "p.Val906Val",
"transcript": "ENST00000966167.1",
"protein_id": "ENSP00000636226.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2718,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2682C>G",
"hgvs_p": "p.Val894Val",
"transcript": "ENST00000888537.1",
"protein_id": "ENSP00000558596.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2682,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2670C>G",
"hgvs_p": "p.Val890Val",
"transcript": "ENST00000888541.1",
"protein_id": "ENSP00000558600.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2670,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2655C>G",
"hgvs_p": "p.Val885Val",
"transcript": "ENST00000966160.1",
"protein_id": "ENSP00000636219.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2655,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2643C>G",
"hgvs_p": "p.Val881Val",
"transcript": "ENST00000888540.1",
"protein_id": "ENSP00000558599.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2643,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2637C>G",
"hgvs_p": "p.Val879Val",
"transcript": "ENST00000966162.1",
"protein_id": "ENSP00000636221.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2637,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2562C>G",
"hgvs_p": "p.Val854Val",
"transcript": "ENST00000888536.1",
"protein_id": "ENSP00000558595.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2562,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2502C>G",
"hgvs_p": "p.Val834Val",
"transcript": "ENST00000966166.1",
"protein_id": "ENSP00000636225.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2502,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2496C>G",
"hgvs_p": "p.Val832Val",
"transcript": "ENST00000966169.1",
"protein_id": "ENSP00000636228.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2496,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966169.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2397C>G",
"hgvs_p": "p.Val799Val",
"transcript": "ENST00000966165.1",
"protein_id": "ENSP00000636224.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2397,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966165.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2382C>G",
"hgvs_p": "p.Val794Val",
"transcript": "ENST00000939373.1",
"protein_id": "ENSP00000609432.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 995,
"cds_start": 2382,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939373.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.1662C>G",
"hgvs_p": "p.Val554Val",
"transcript": "ENST00000939371.1",
"protein_id": "ENSP00000609430.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 755,
"cds_start": 1662,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Val506Val",
"transcript": "ENST00000966163.1",
"protein_id": "ENSP00000636222.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 707,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966163.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.399C>G",
"hgvs_p": "p.Val133Val",
"transcript": "ENST00000966164.1",
"protein_id": "ENSP00000636223.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 334,
"cds_start": 399,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.220-4042C>G",
"hgvs_p": null,
"transcript": "ENST00000966161.1",
"protein_id": "ENSP00000636220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.109-4042C>G",
"hgvs_p": null,
"transcript": "ENST00000966168.1",
"protein_id": "ENSP00000636227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966168.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "n.164C>G",
"hgvs_p": null,
"transcript": "ENST00000471640.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "n.316C>G",
"hgvs_p": null,
"transcript": "ENST00000478449.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478449.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "n.214C>G",
"hgvs_p": null,
"transcript": "ENST00000492058.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492058.1"
}
],
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"dbsnp": "rs9288088",
"frequency_reference_population": 0.7683992,
"hom_count_reference_population": 430417,
"allele_count_reference_population": 1094935,
"gnomad_exomes_af": 0.779846,
"gnomad_genomes_af": 0.672577,
"gnomad_exomes_ac": 992663,
"gnomad_genomes_ac": 102272,
"gnomad_exomes_homalt": 392737,
"gnomad_genomes_homalt": 37680,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.341,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_205842.3",
"gene_symbol": "NCKAP1",
"hgnc_id": 7666,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2799C>G",
"hgvs_p": "p.Val933Val"
}
],
"clinvar_disease": "NCKAP1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|NCKAP1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}