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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: 2-132725636-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=132725636&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 132725636,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_207363.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "NM_207363.3",
"protein_id": "NP_997246.2",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 1909,
"cds_start": 5704,
"cds_end": null,
"cds_length": 5730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409261.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207363.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "ENST00000409261.6",
"protein_id": "ENSP00000387128.1",
"transcript_support_level": 5,
"aa_start": 1902,
"aa_end": null,
"aa_length": 1909,
"cds_start": 5704,
"cds_end": null,
"cds_length": 5730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207363.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409261.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Ala583Thr",
"transcript": "NM_207481.4",
"protein_id": "NP_997364.3",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 590,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207481.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Ala583Thr",
"transcript": "ENST00000409213.5",
"protein_id": "ENSP00000386952.1",
"transcript_support_level": 5,
"aa_start": 583,
"aa_end": null,
"aa_length": 590,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409213.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr",
"transcript": "XM_047444129.1",
"protein_id": "XP_047300085.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 1909,
"cds_start": 5704,
"cds_end": null,
"cds_length": 5730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444129.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Ala583Thr",
"transcript": "XM_047444133.1",
"protein_id": "XP_047300089.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 590,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444133.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Ala583Thr",
"transcript": "XM_047444134.1",
"protein_id": "XP_047300090.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 590,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444134.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.450+3180G>A",
"hgvs_p": null,
"transcript": "ENST00000640590.1",
"protein_id": "ENSP00000490966.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640590.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.313+6101G>A",
"hgvs_p": null,
"transcript": "ENST00000639875.1",
"protein_id": "ENSP00000492746.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639875.1"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5580+3180G>A",
"hgvs_p": null,
"transcript": "XM_005263659.5",
"protein_id": "XP_005263716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": null,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263659.5"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5580+3180G>A",
"hgvs_p": null,
"transcript": "XM_005263660.5",
"protein_id": "XP_005263717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": null,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263660.5"
},
{
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5580+3180G>A",
"hgvs_p": null,
"transcript": "XM_011511097.4",
"protein_id": "XP_011509399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": null,
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"cds_length": 5862,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511097.4"
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5580+3180G>A",
"hgvs_p": null,
"transcript": "XM_011511099.4",
"protein_id": "XP_011509401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511099.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5580+3180G>A",
"hgvs_p": null,
"transcript": "XM_011511100.4",
"protein_id": "XP_011509402.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011511100.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5580+3180G>A",
"hgvs_p": null,
"transcript": "XM_017003974.1",
"protein_id": "XP_016859463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003974.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5580+3180G>A",
"hgvs_p": null,
"transcript": "XM_017003975.3",
"protein_id": "XP_016859464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003975.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5505+3180G>A",
"hgvs_p": null,
"transcript": "XM_011511102.3",
"protein_id": "XP_011509404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1928,
"cds_start": null,
"cds_end": null,
"cds_length": 5787,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511102.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5505+3180G>A",
"hgvs_p": null,
"transcript": "XM_017003977.3",
"protein_id": "XP_016859466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1928,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003977.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5505+3180G>A",
"hgvs_p": null,
"transcript": "XM_047444128.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047444128.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5376+3180G>A",
"hgvs_p": null,
"transcript": "XM_011511104.1",
"protein_id": "XP_011509406.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "XM_011511104.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5376+3180G>A",
"hgvs_p": null,
"transcript": "XM_011511105.2",
"protein_id": "XP_011509407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1885,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511105.2"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.5097+3180G>A",
"hgvs_p": null,
"transcript": "XM_017003978.3",
"protein_id": "XP_016859467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1792,
"cds_start": null,
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"cds_length": 5379,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003978.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"hgvs_c": "c.1623+3180G>A",
"hgvs_p": null,
"transcript": "XM_017003979.3",
"protein_id": "XP_016859468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003979.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286068",
"gene_hgnc_id": null,
"hgvs_c": "n.457+39171C>T",
"hgvs_p": null,
"transcript": "ENST00000651100.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000651100.1"
}
],
"gene_symbol": "NCKAP5",
"gene_hgnc_id": 29847,
"dbsnp": "rs746785063",
"frequency_reference_population": 0.000013670489,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000102938,
"gnomad_genomes_af": 0.0000460163,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.026295483112335205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.825,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_207363.3",
"gene_symbol": "NCKAP5",
"hgnc_id": 29847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5704G>A",
"hgvs_p": "p.Ala1902Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000651100.1",
"gene_symbol": "ENSG00000286068",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.457+39171C>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
}