← 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: 6-4116002-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=4116002&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 4116002,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_206836.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Arg353Gly",
"transcript": "NM_206836.3",
"protein_id": "NP_996667.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": "ENST00000380118.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206836.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Arg353Gly",
"transcript": "ENST00000380118.8",
"protein_id": "ENSP00000369461.3",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": "NM_206836.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380118.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "ENST00000361538.6",
"protein_id": "ENSP00000354737.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 364,
"cds_start": 967,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361538.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "ENST00000380125.6",
"protein_id": "ENSP00000369468.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 364,
"cds_start": 967,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380125.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*615A>G",
"hgvs_p": null,
"transcript": "ENST00000496241.6",
"protein_id": "ENSP00000417170.2",
"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": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496241.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*615A>G",
"hgvs_p": null,
"transcript": "ENST00000496241.6",
"protein_id": "ENSP00000417170.2",
"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": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496241.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Arg383Gly",
"transcript": "ENST00000866744.1",
"protein_id": "ENSP00000536802.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 424,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866744.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Arg363Gly",
"transcript": "ENST00000866741.1",
"protein_id": "ENSP00000536800.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 404,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866741.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "NM_001166010.2",
"protein_id": "NP_001159482.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 364,
"cds_start": 967,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166010.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "NM_006117.3",
"protein_id": "NP_006108.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 364,
"cds_start": 967,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006117.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "ENST00000465828.5",
"protein_id": "ENSP00000420309.1",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 364,
"cds_start": 967,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465828.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "ENST00000866740.1",
"protein_id": "ENSP00000536799.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 364,
"cds_start": 967,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866740.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Arg305Gly",
"transcript": "ENST00000866743.1",
"protein_id": "ENSP00000536801.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 346,
"cds_start": 913,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866743.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.868A>G",
"hgvs_p": "p.Arg290Gly",
"transcript": "ENST00000866745.1",
"protein_id": "ENSP00000536804.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 331,
"cds_start": 868,
"cds_end": null,
"cds_length": 996,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866745.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.841A>G",
"hgvs_p": "p.Arg281Gly",
"transcript": "ENST00000866747.1",
"protein_id": "ENSP00000536806.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 322,
"cds_start": 841,
"cds_end": null,
"cds_length": 969,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866747.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.823A>G",
"hgvs_p": "p.Arg275Gly",
"transcript": "ENST00000866749.1",
"protein_id": "ENSP00000536807.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 316,
"cds_start": 823,
"cds_end": null,
"cds_length": 951,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866749.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*680A>G",
"hgvs_p": null,
"transcript": "ENST00000380120.6",
"protein_id": "ENSP00000369463.2",
"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": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000380120.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.1826A>G",
"hgvs_p": null,
"transcript": "ENST00000464057.5",
"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": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464057.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.3576A>G",
"hgvs_p": null,
"transcript": "ENST00000464583.5",
"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": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464583.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*239A>G",
"hgvs_p": null,
"transcript": "ENST00000478266.6",
"protein_id": "ENSP00000417803.2",
"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": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000478266.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.1133A>G",
"hgvs_p": null,
"transcript": "NR_028588.2",
"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": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_028588.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*680A>G",
"hgvs_p": null,
"transcript": "ENST00000380120.6",
"protein_id": "ENSP00000369463.2",
"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": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000380120.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*239A>G",
"hgvs_p": null,
"transcript": "ENST00000478266.6",
"protein_id": "ENSP00000417803.2",
"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": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000478266.6"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.664-5947T>C",
"hgvs_p": null,
"transcript": "ENST00000427996.5",
"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": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000427996.5"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.744+339T>C",
"hgvs_p": null,
"transcript": "ENST00000436110.1",
"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": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000436110.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.503-5947T>C",
"hgvs_p": null,
"transcript": "ENST00000451679.6",
"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": 949,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000451679.6"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.615+339T>C",
"hgvs_p": null,
"transcript": "ENST00000642280.1",
"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": 699,
"mane_select": null,
"mane_plus": null,
"biotype": "transcribed_unitary_pseudogene",
"feature": "ENST00000642280.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.1050-5947T>C",
"hgvs_p": null,
"transcript": "ENST00000643110.1",
"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": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000643110.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.1306+339T>C",
"hgvs_p": null,
"transcript": "NR_104463.3",
"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": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104463.3"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.672-5947T>C",
"hgvs_p": null,
"transcript": "NR_104464.3",
"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": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104464.3"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.1050-5947T>C",
"hgvs_p": null,
"transcript": "NR_172627.1",
"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": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_172627.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.672-5947T>C",
"hgvs_p": null,
"transcript": "NR_172628.1",
"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": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_172628.1"
}
],
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"dbsnp": "rs750976196",
"frequency_reference_population": 0.00006775058,
"hom_count_reference_population": 0,
"allele_count_reference_population": 99,
"gnomad_exomes_af": 0.0000677506,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.847103476524353,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.558,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4306,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.874,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_206836.3",
"gene_symbol": "ECI2",
"hgnc_id": 14601,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Arg353Gly"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427996.5",
"gene_symbol": "TEX56P",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.664-5947T>C",
"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
}