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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: 2-177219256-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177219256&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177219256,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_194247.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Gly365Ala",
"transcript": "NM_194247.4",
"protein_id": "NP_919223.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 378,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": "ENST00000392524.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194247.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Gly365Ala",
"transcript": "ENST00000392524.7",
"protein_id": "ENSP00000376309.2",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 378,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": "NM_194247.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392524.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Gly365Ala",
"transcript": "ENST00000435711.5",
"protein_id": "ENSP00000416340.1",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 378,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435711.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1148G>C",
"hgvs_p": "p.Gly383Ala",
"transcript": "ENST00000679328.1",
"protein_id": "ENSP00000503903.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 396,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679328.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Gly365Ala",
"transcript": "NM_001330249.2",
"protein_id": "NP_001317178.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 378,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330249.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Gly365Ala",
"transcript": "ENST00000678111.1",
"protein_id": "ENSP00000504135.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 378,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678111.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Gly365Ala",
"transcript": "ENST00000947720.1",
"protein_id": "ENSP00000617779.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 378,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947720.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "ENST00000861956.1",
"protein_id": "ENSP00000532015.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 377,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861956.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "ENST00000861981.1",
"protein_id": "ENSP00000532040.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 377,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861981.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "ENST00000925137.1",
"protein_id": "ENSP00000595196.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 377,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925137.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "ENST00000925139.1",
"protein_id": "ENSP00000595198.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 377,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925139.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "ENST00000925146.1",
"protein_id": "ENSP00000595205.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 377,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925146.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "ENST00000947719.1",
"protein_id": "ENSP00000617778.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 377,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947719.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1088G>C",
"hgvs_p": "p.Gly363Ala",
"transcript": "ENST00000925147.1",
"protein_id": "ENSP00000595206.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 376,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925147.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1088G>C",
"hgvs_p": "p.Gly363Ala",
"transcript": "ENST00000925156.1",
"protein_id": "ENSP00000595215.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 376,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925156.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Gly356Ala",
"transcript": "ENST00000861978.1",
"protein_id": "ENSP00000532037.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 369,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861978.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1064G>C",
"hgvs_p": "p.Gly355Ala",
"transcript": "ENST00000861963.1",
"protein_id": "ENSP00000532022.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 368,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861963.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1061G>C",
"hgvs_p": "p.Gly354Ala",
"transcript": "ENST00000861976.1",
"protein_id": "ENSP00000532035.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 367,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861976.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Gly353Ala",
"transcript": "ENST00000925178.1",
"protein_id": "ENSP00000595237.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 366,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925178.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Gly351Ala",
"transcript": "ENST00000861962.1",
"protein_id": "ENSP00000532021.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861962.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1049G>C",
"hgvs_p": "p.Gly350Ala",
"transcript": "ENST00000925149.1",
"protein_id": "ENSP00000595208.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 363,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925149.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Gly348Ala",
"transcript": "ENST00000861979.1",
"protein_id": "ENSP00000532038.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 361,
"cds_start": 1043,
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "n.1258G>C",
"hgvs_p": null,
"transcript": "ENST00000678421.1",
"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": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "n.1094G>C",
"hgvs_p": null,
"transcript": "ENST00000679159.1",
"protein_id": "ENSP00000504152.1",
"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": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "n.1100G>C",
"hgvs_p": null,
"transcript": "NR_138470.2",
"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": 5627,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138470.2"
},
{
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.*446C>G",
"hgvs_p": null,
"transcript": "ENST00000699431.1",
"protein_id": "ENSP00000514384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699431.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.*3263C>G",
"hgvs_p": null,
"transcript": "ENST00000699297.1",
"protein_id": "ENSP00000514277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699297.1"
}
],
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"dbsnp": "rs1192033484",
"frequency_reference_population": 0.0000024789106,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205272,
"gnomad_genomes_af": 0.00000657298,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4861895740032196,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.448,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2774,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.68,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_194247.4",
"gene_symbol": "HNRNPA3",
"hgnc_id": 24941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Gly365Ala"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000699296.1",
"gene_symbol": "NFE2L2",
"hgnc_id": 7782,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*2682C>G",
"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
}