← 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: 5-43649300-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=43649300&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 43649300,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000344920.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "NM_182977.3",
"protein_id": "NP_892022.2",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": "ENST00000344920.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "ENST00000344920.9",
"protein_id": "ENSP00000343873.4",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": "NM_182977.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "ENST00000264663.9",
"protein_id": "ENSP00000264663.5",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "NM_012343.4",
"protein_id": "NP_036475.3",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 6522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "ENST00000653251.1",
"protein_id": "ENSP00000499281.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 4046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "ENST00000656666.1",
"protein_id": "ENSP00000499249.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "ENST00000662525.1",
"protein_id": "ENSP00000499639.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "ENST00000669601.1",
"protein_id": "ENSP00000499527.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "ENST00000670904.1",
"protein_id": "ENSP00000499611.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "ENST00000671668.1",
"protein_id": "ENSP00000499494.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1421C>A",
"hgvs_p": "p.Ala474Glu",
"transcript": "ENST00000654405.1",
"protein_id": "ENSP00000499670.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1421,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1205C>A",
"hgvs_p": "p.Ala402Glu",
"transcript": "NM_001331026.2",
"protein_id": "NP_001317955.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 955,
"cds_start": 1205,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1205C>A",
"hgvs_p": "p.Ala402Glu",
"transcript": "ENST00000512996.6",
"protein_id": "ENSP00000426343.1",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 955,
"cds_start": 1205,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1205C>A",
"hgvs_p": "p.Ala402Glu",
"transcript": "ENST00000657172.1",
"protein_id": "ENSP00000499431.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 565,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "XM_005248274.6",
"protein_id": "XP_005248331.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "XM_011514001.4",
"protein_id": "XP_011512303.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 3142,
"cdna_end": null,
"cdna_length": 7797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu",
"transcript": "XM_017009293.3",
"protein_id": "XP_016864782.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1598,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1205C>A",
"hgvs_p": "p.Ala402Glu",
"transcript": "XM_006714461.5",
"protein_id": "XP_006714524.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 955,
"cds_start": 1205,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.98C>A",
"hgvs_p": "p.Ala33Glu",
"transcript": "XM_005248275.6",
"protein_id": "XP_005248332.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 586,
"cds_start": 98,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*904C>A",
"hgvs_p": null,
"transcript": "ENST00000652986.1",
"protein_id": "ENSP00000499801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1460C>A",
"hgvs_p": null,
"transcript": "ENST00000654931.1",
"protein_id": "ENSP00000499477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1714C>A",
"hgvs_p": null,
"transcript": "ENST00000657973.1",
"protein_id": "ENSP00000499581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1163C>A",
"hgvs_p": null,
"transcript": "ENST00000658729.1",
"protein_id": "ENSP00000499331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1357C>A",
"hgvs_p": null,
"transcript": "ENST00000660676.1",
"protein_id": "ENSP00000499491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*904C>A",
"hgvs_p": null,
"transcript": "ENST00000652986.1",
"protein_id": "ENSP00000499801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1460C>A",
"hgvs_p": null,
"transcript": "ENST00000654931.1",
"protein_id": "ENSP00000499477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1714C>A",
"hgvs_p": null,
"transcript": "ENST00000657973.1",
"protein_id": "ENSP00000499581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1163C>A",
"hgvs_p": null,
"transcript": "ENST00000658729.1",
"protein_id": "ENSP00000499331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*1357C>A",
"hgvs_p": null,
"transcript": "ENST00000660676.1",
"protein_id": "ENSP00000499491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"dbsnp": "rs387907232",
"frequency_reference_population": 6.8410026e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.841e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8696385025978088,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.84,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9945,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.534,
"phylop100way_prediction": "Pathogenic",
"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_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000344920.9",
"gene_symbol": "NNT",
"hgnc_id": 7863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1598C>A",
"hgvs_p": "p.Ala533Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}