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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: 2-105881413-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=105881413&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 105881413,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003581.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "NM_003581.5",
"protein_id": "NP_003572.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233154.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003581.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000233154.9",
"protein_id": "ENSP00000233154.4",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003581.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233154.9"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000393349.2",
"protein_id": "ENSP00000377018.2",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393349.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.330C>A",
"hgvs_p": "p.Ser110Arg",
"transcript": "ENST00000958280.1",
"protein_id": "ENSP00000628339.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 386,
"cds_start": 330,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958280.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "NM_001004720.3",
"protein_id": "NP_001004720.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004720.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000899654.1",
"protein_id": "ENSP00000569713.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899654.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000899655.1",
"protein_id": "ENSP00000569714.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899655.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000899656.1",
"protein_id": "ENSP00000569715.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899656.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000899657.1",
"protein_id": "ENSP00000569716.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899657.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000899658.1",
"protein_id": "ENSP00000569717.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899658.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000899659.1",
"protein_id": "ENSP00000569718.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899659.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000899660.1",
"protein_id": "ENSP00000569719.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899660.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000899661.1",
"protein_id": "ENSP00000569720.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899661.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000940636.1",
"protein_id": "ENSP00000610695.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940636.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000940637.1",
"protein_id": "ENSP00000610696.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940637.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000940638.1",
"protein_id": "ENSP00000610697.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940638.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000940639.1",
"protein_id": "ENSP00000610698.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940639.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000940640.1",
"protein_id": "ENSP00000610699.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940640.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000940641.1",
"protein_id": "ENSP00000610700.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940641.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000958274.1",
"protein_id": "ENSP00000628333.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958274.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000958275.1",
"protein_id": "ENSP00000628334.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958275.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg",
"transcript": "ENST00000958276.1",
"protein_id": "ENSP00000628335.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 380,
"cds_start": 312,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958276.1"
},
{
"aa_ref": "S",
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"intron_rank": 3,
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"gene_symbol": "NCK2",
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"hgvs_c": "c.227-11569C>A",
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"transcript": "ENST00000451463.6",
"protein_id": "ENSP00000410428.2",
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"aa_length": 83,
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"cds_length": 252,
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"biotype": "protein_coding",
"feature": "ENST00000451463.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "NCK2",
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"hgvs_c": "c.227-11569C>A",
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"transcript": "ENST00000522586.5",
"protein_id": "ENSP00000431109.1",
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"cdna_length": null,
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"biotype": "protein_coding",
"feature": "ENST00000522586.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "NCK2",
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"hgvs_c": "c.227-11569C>A",
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"transcript": "XM_011511992.3",
"protein_id": "XP_011510294.2",
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"aa_end": null,
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"biotype": "protein_coding",
"feature": "XM_011511992.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "NCK2",
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"hgvs_c": "c.227-11569C>A",
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"transcript": "XM_047446021.1",
"protein_id": "XP_047301977.1",
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"aa_end": null,
"aa_length": 83,
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"biotype": "protein_coding",
"feature": "XM_047446021.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "ENSG00000234162",
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"hgvs_c": "n.752-6677G>T",
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"transcript": "ENST00000652190.1",
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000652190.1"
}
],
"gene_symbol": "NCK2",
"gene_hgnc_id": 7665,
"dbsnp": "rs767425900",
"frequency_reference_population": 0.0000068477675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684777,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09954667091369629,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.5496,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.521,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003581.5",
"gene_symbol": "NCK2",
"hgnc_id": 7665,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Ser104Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000652190.1",
"gene_symbol": "ENSG00000234162",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.752-6677G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}