← 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: 12-6548794-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6548794&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6548794,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001193457.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "NM_001193457.2",
"protein_id": "NP_001180386.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 571,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619571.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193457.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000619571.5",
"protein_id": "ENSP00000482285.1",
"transcript_support_level": 2,
"aa_start": 379,
"aa_end": null,
"aa_length": 571,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001193457.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619571.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "ENST00000336604.8",
"protein_id": "ENSP00000337593.4",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 562,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336604.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.320G>A",
"hgvs_p": null,
"transcript": "ENST00000396830.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000396830.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.*414G>A",
"hgvs_p": null,
"transcript": "ENST00000487279.6",
"protein_id": "ENSP00000432493.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487279.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.*414G>A",
"hgvs_p": null,
"transcript": "ENST00000487279.6",
"protein_id": "ENSP00000432493.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487279.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376His",
"transcript": "ENST00000900776.1",
"protein_id": "ENSP00000570835.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 568,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900776.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "NM_001039670.3",
"protein_id": "NP_001034759.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 563,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039670.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "ENST00000356896.8",
"protein_id": "ENSP00000349364.4",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 563,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356896.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "NM_080730.5",
"protein_id": "NP_542768.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 562,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080730.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "NM_001330325.2",
"protein_id": "NP_001317254.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 561,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330325.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "ENST00000900775.1",
"protein_id": "ENSP00000570834.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 560,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900775.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "NM_001330324.2",
"protein_id": "NP_001317253.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 559,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330324.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "ENST00000396840.6",
"protein_id": "ENSP00000380052.2",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 559,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396840.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "ENST00000952553.1",
"protein_id": "ENSP00000622612.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 559,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952553.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64His",
"transcript": "ENST00000465801.5",
"protein_id": "ENSP00000436261.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 255,
"cds_start": 191,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465801.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_047428689.1",
"protein_id": "XP_047284645.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 659,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428689.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378His",
"transcript": "XM_047428690.1",
"protein_id": "XP_047284646.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 658,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428690.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "XM_011520947.4",
"protein_id": "XP_011519249.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 651,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520947.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "XM_011520948.4",
"protein_id": "XP_011519250.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 650,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520948.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "XM_011520949.4",
"protein_id": "XP_011519251.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 648,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520949.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_047428691.1",
"protein_id": "XP_047284647.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 607,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428691.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_047428692.1",
"protein_id": "XP_047284648.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 570,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428692.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "XM_006718975.5",
"protein_id": "XP_006719038.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 562,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718975.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "XM_006718976.5",
"protein_id": "XP_006719039.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 560,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718976.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72His",
"transcript": "XM_047428693.1",
"protein_id": "XP_047284649.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 352,
"cds_start": 215,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428693.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1072-634G>A",
"hgvs_p": null,
"transcript": "ENST00000952552.1",
"protein_id": "ENSP00000622611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952552.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.744G>A",
"hgvs_p": null,
"transcript": "ENST00000471408.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471408.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.472G>A",
"hgvs_p": null,
"transcript": "ENST00000472558.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472558.6"
},
{
"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": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.1251G>A",
"hgvs_p": null,
"transcript": "ENST00000488007.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488007.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.1222G>A",
"hgvs_p": null,
"transcript": "NR_036467.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_036467.2"
}
],
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"dbsnp": "rs149041603",
"frequency_reference_population": 0.00005887544,
"hom_count_reference_population": 0,
"allele_count_reference_population": 95,
"gnomad_exomes_af": 0.0000602148,
"gnomad_genomes_af": 0.0000460096,
"gnomad_exomes_ac": 88,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6159806251525879,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.632,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.02,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_001193457.2",
"gene_symbol": "IFFO1",
"hgnc_id": 24970,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His"
}
],
"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
}