← 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: 13-32442975-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32442975&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32442975,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001320836.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.1533A>C",
"hgvs_p": null,
"transcript": "ENST00000380121.7",
"protein_id": null,
"transcript_support_level": 1,
"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": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000380121.7"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2849A>C",
"hgvs_p": "p.Asn950Thr",
"transcript": "NM_001320836.3",
"protein_id": "NP_001307765.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3027,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320836.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2849A>C",
"hgvs_p": "p.Asn950Thr",
"transcript": "NM_001387001.1",
"protein_id": "NP_001373930.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2867,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387001.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2849A>C",
"hgvs_p": "p.Asn950Thr",
"transcript": "NM_001387002.1",
"protein_id": "NP_001373931.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2962,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387002.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2558A>C",
"hgvs_p": "p.Asn853Thr",
"transcript": "NM_001387004.1",
"protein_id": "NP_001373933.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 2736,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387004.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2558A>C",
"hgvs_p": "p.Asn853Thr",
"transcript": "NM_001387017.1",
"protein_id": "NP_001373946.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 2671,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387017.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2411A>C",
"hgvs_p": "p.Asn804Thr",
"transcript": "NM_001387005.1",
"protein_id": "NP_001373934.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387005.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2411A>C",
"hgvs_p": "p.Asn804Thr",
"transcript": "NM_001387006.1",
"protein_id": "NP_001373935.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387006.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1610A>C",
"hgvs_p": "p.Asn537Thr",
"transcript": "NM_001387008.1",
"protein_id": "NP_001373937.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 768,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387008.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1610A>C",
"hgvs_p": "p.Asn537Thr",
"transcript": "NM_001387009.1",
"protein_id": "NP_001373938.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 768,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387009.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1562A>C",
"hgvs_p": "p.Asn521Thr",
"transcript": "NM_033111.5",
"protein_id": "NP_149102.3",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 752,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033111.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1562A>C",
"hgvs_p": "p.Asn521Thr",
"transcript": "ENST00000399396.7",
"protein_id": "ENSP00000382328.3",
"transcript_support_level": 5,
"aa_start": 521,
"aa_end": null,
"aa_length": 752,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399396.7"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1517A>C",
"hgvs_p": "p.Asn506Thr",
"transcript": "NM_001278432.2",
"protein_id": "NP_001265361.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 737,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278432.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1517A>C",
"hgvs_p": "p.Asn506Thr",
"transcript": "NM_001387015.1",
"protein_id": "NP_001373944.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 737,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387015.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1517A>C",
"hgvs_p": "p.Asn506Thr",
"transcript": "NM_001387018.1",
"protein_id": "NP_001373947.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 737,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387018.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1517A>C",
"hgvs_p": "p.Asn506Thr",
"transcript": "NM_001387019.1",
"protein_id": "NP_001373948.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 737,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387019.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1517A>C",
"hgvs_p": "p.Asn506Thr",
"transcript": "ENST00000357505.10",
"protein_id": "ENSP00000350104.6",
"transcript_support_level": 2,
"aa_start": 506,
"aa_end": null,
"aa_length": 737,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357505.10"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1517A>C",
"hgvs_p": "p.Asn506Thr",
"transcript": "ENST00000504114.5",
"protein_id": "ENSP00000427477.1",
"transcript_support_level": 5,
"aa_start": 506,
"aa_end": null,
"aa_length": 737,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504114.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1397A>C",
"hgvs_p": "p.Asn466Thr",
"transcript": "NM_001387020.1",
"protein_id": "NP_001373949.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 697,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387020.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1259A>C",
"hgvs_p": "p.Asn420Thr",
"transcript": "NM_001387016.1",
"protein_id": "NP_001373945.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 651,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387016.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Asn391Thr",
"transcript": "ENST00000674456.1",
"protein_id": "ENSP00000501483.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 622,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674456.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1301A>C",
"hgvs_p": "p.Asn434Thr",
"transcript": "XM_047430041.1",
"protein_id": "XP_047285997.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 665,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430041.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1698-427A>C",
"hgvs_p": null,
"transcript": "ENST00000446957.6",
"protein_id": "ENSP00000394239.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": null,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446957.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.1411A>C",
"hgvs_p": null,
"transcript": "ENST00000503296.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000503296.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.2200A>C",
"hgvs_p": null,
"transcript": "ENST00000509076.1",
"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": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000509076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.2915A>C",
"hgvs_p": null,
"transcript": "NR_170379.1",
"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": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.2637A>C",
"hgvs_p": null,
"transcript": "NR_170380.1",
"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": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.2928A>C",
"hgvs_p": null,
"transcript": "NR_170381.1",
"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": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.3010A>C",
"hgvs_p": null,
"transcript": "NR_170382.1",
"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": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.3075A>C",
"hgvs_p": null,
"transcript": "NR_170383.1",
"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": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.2796A>C",
"hgvs_p": null,
"transcript": "NR_170384.1",
"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": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.2572A>C",
"hgvs_p": null,
"transcript": "NR_170385.1",
"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": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.1453A>C",
"hgvs_p": null,
"transcript": "NR_170386.1",
"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": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170386.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.3168A>C",
"hgvs_p": null,
"transcript": "NR_170387.1",
"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": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170387.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.2977A>C",
"hgvs_p": null,
"transcript": "NR_170388.1",
"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": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.1265A>C",
"hgvs_p": null,
"transcript": "NR_170389.1",
"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": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.1525A>C",
"hgvs_p": null,
"transcript": "NR_170390.1",
"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": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.*91A>C",
"hgvs_p": null,
"transcript": "ENST00000674422.1",
"protein_id": "ENSP00000501390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.*92A>C",
"hgvs_p": null,
"transcript": "ENST00000674452.1",
"protein_id": "ENSP00000501432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": null,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.*90A>C",
"hgvs_p": null,
"transcript": "ENST00000674161.1",
"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": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000674161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.*1426A>C",
"hgvs_p": null,
"transcript": "ENST00000674272.1",
"protein_id": "ENSP00000501358.1",
"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": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.*91A>C",
"hgvs_p": null,
"transcript": "ENST00000674279.1",
"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": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000674279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.*90A>C",
"hgvs_p": null,
"transcript": "ENST00000674346.1",
"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": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000674346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.*1419A>C",
"hgvs_p": null,
"transcript": "ENST00000674384.1",
"protein_id": "ENSP00000501505.1",
"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": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674384.1"
}
],
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"dbsnp": "rs201002215",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06913602352142334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.041,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320836.3",
"gene_symbol": "N4BP2L2",
"hgnc_id": 26916,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2849A>C",
"hgvs_p": "p.Asn950Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}