← 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: 12-53019941-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53019941&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53019941,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001300821.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "NM_001417.7",
"protein_id": "NP_001408.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 611,
"cds_start": 392,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": "ENST00000262056.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001417.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000262056.14",
"protein_id": "ENSP00000262056.9",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 611,
"cds_start": 392,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": "NM_001417.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262056.14"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961691.1",
"protein_id": "ENSP00000631750.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 621,
"cds_start": 392,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961691.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961687.1",
"protein_id": "ENSP00000631746.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 617,
"cds_start": 392,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961687.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "NM_001300821.3",
"protein_id": "NP_001287750.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 616,
"cds_start": 392,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300821.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000420463.7",
"protein_id": "ENSP00000388806.3",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 616,
"cds_start": 392,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420463.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961689.1",
"protein_id": "ENSP00000631748.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 616,
"cds_start": 392,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961689.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961690.1",
"protein_id": "ENSP00000631749.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 615,
"cds_start": 392,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961690.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961694.1",
"protein_id": "ENSP00000631753.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 613,
"cds_start": 392,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961694.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000859795.1",
"protein_id": "ENSP00000529854.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 612,
"cds_start": 392,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859795.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961686.1",
"protein_id": "ENSP00000631745.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 610,
"cds_start": 392,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961686.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961688.1",
"protein_id": "ENSP00000631747.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 609,
"cds_start": 392,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961688.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000859796.1",
"protein_id": "ENSP00000529855.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 605,
"cds_start": 392,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859796.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000859797.1",
"protein_id": "ENSP00000529856.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 604,
"cds_start": 392,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859797.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961692.1",
"protein_id": "ENSP00000631751.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 597,
"cds_start": 392,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961692.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000961693.1",
"protein_id": "ENSP00000631752.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 521,
"cds_start": 392,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961693.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000859798.1",
"protein_id": "ENSP00000529857.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 507,
"cds_start": 392,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859798.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000549481.5",
"protein_id": "ENSP00000449746.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 359,
"cds_start": 392,
"cds_end": null,
"cds_length": 1081,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549481.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr",
"transcript": "ENST00000552490.5",
"protein_id": "ENSP00000450324.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 274,
"cds_start": 392,
"cds_end": null,
"cds_length": 826,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552490.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.254G>C",
"hgvs_p": "p.Ser85Thr",
"transcript": "ENST00000551002.5",
"protein_id": "ENSP00000447192.1",
"transcript_support_level": 4,
"aa_start": 85,
"aa_end": null,
"aa_length": 168,
"cds_start": 254,
"cds_end": null,
"cds_length": 509,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551002.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.360+935G>C",
"hgvs_p": null,
"transcript": "NM_001330654.2",
"protein_id": "NP_001317583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": null,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330654.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.360+935G>C",
"hgvs_p": null,
"transcript": "ENST00000416762.7",
"protein_id": "ENSP00000412530.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": null,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416762.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "n.392G>C",
"hgvs_p": null,
"transcript": "ENST00000549077.5",
"protein_id": "ENSP00000448399.1",
"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": 885,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549077.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "n.475G>C",
"hgvs_p": null,
"transcript": "ENST00000549645.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 590,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000549645.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "n.179G>C",
"hgvs_p": null,
"transcript": "ENST00000550025.1",
"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": 465,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000550025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "n.392G>C",
"hgvs_p": null,
"transcript": "ENST00000550390.1",
"protein_id": "ENSP00000448980.1",
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000550390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "n.392G>C",
"hgvs_p": null,
"transcript": "ENST00000550704.5",
"protein_id": "ENSP00000448365.1",
"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": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000550704.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "n.641G>C",
"hgvs_p": null,
"transcript": "ENST00000551527.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 769,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000551527.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.322-4998C>G",
"hgvs_p": null,
"transcript": "ENST00000552905.7",
"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": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000552905.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.308-984C>G",
"hgvs_p": null,
"transcript": "ENST00000732094.1",
"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": 807,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000732094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.106-4998C>G",
"hgvs_p": null,
"transcript": "ENST00000732095.1",
"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": 448,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000732095.1"
}
],
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"dbsnp": "rs201365536",
"frequency_reference_population": 0.00034292403,
"hom_count_reference_population": 0,
"allele_count_reference_population": 553,
"gnomad_exomes_af": 0.000348525,
"gnomad_genomes_af": 0.000289169,
"gnomad_exomes_ac": 509,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1308709681034088,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.1324,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.742,
"phylop100way_prediction": "Uncertain_significance",
"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_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001300821.3",
"gene_symbol": "EIF4B",
"hgnc_id": 3285,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Ser131Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000552905.7",
"gene_symbol": "TNS2-AS1",
"hgnc_id": 27464,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.322-4998C>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
}