← 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: 1-2556714-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2556714&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2556714,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000355716.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "NM_003820.4",
"protein_id": "NP_003811.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 283,
"cds_start": 50,
"cds_end": null,
"cds_length": 852,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": "ENST00000355716.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "ENST00000355716.5",
"protein_id": "ENSP00000347948.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 283,
"cds_start": 50,
"cds_end": null,
"cds_length": 852,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": "NM_003820.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "n.70+259A>G",
"hgvs_p": null,
"transcript": "ENST00000475523.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "ENST00000434817.5",
"protein_id": "ENSP00000415254.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 230,
"cds_start": 50,
"cds_end": null,
"cds_length": 694,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "ENST00000435221.6",
"protein_id": "ENSP00000399292.2",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 230,
"cds_start": 50,
"cds_end": null,
"cds_length": 694,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "ENST00000451778.5",
"protein_id": "ENSP00000399533.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 230,
"cds_start": 50,
"cds_end": null,
"cds_length": 694,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "ENST00000409119.5",
"protein_id": "ENSP00000386859.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 193,
"cds_start": 50,
"cds_end": null,
"cds_length": 582,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "NM_001297605.2",
"protein_id": "NP_001284534.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 184,
"cds_start": 50,
"cds_end": null,
"cds_length": 555,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "ENST00000426449.5",
"protein_id": "ENSP00000411854.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 182,
"cds_start": 50,
"cds_end": null,
"cds_length": 551,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433412.1",
"protein_id": "XP_047289368.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 283,
"cds_start": 50,
"cds_end": null,
"cds_length": 852,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433413.1",
"protein_id": "XP_047289369.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 283,
"cds_start": 50,
"cds_end": null,
"cds_length": 852,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433414.1",
"protein_id": "XP_047289370.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 283,
"cds_start": 50,
"cds_end": null,
"cds_length": 852,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433416.1",
"protein_id": "XP_047289372.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 283,
"cds_start": 50,
"cds_end": null,
"cds_length": 852,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433418.1",
"protein_id": "XP_047289374.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 283,
"cds_start": 50,
"cds_end": null,
"cds_length": 852,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433419.1",
"protein_id": "XP_047289375.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 283,
"cds_start": 50,
"cds_end": null,
"cds_length": 852,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_006711019.3",
"protein_id": "XP_006711082.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 197,
"cds_start": 50,
"cds_end": null,
"cds_length": 594,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433421.1",
"protein_id": "XP_047289377.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 193,
"cds_start": 50,
"cds_end": null,
"cds_length": 582,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433422.1",
"protein_id": "XP_047289378.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 193,
"cds_start": 50,
"cds_end": null,
"cds_length": 582,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "XM_047433423.1",
"protein_id": "XP_047289379.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 185,
"cds_start": 50,
"cds_end": null,
"cds_length": 558,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "n.310A>G",
"hgvs_p": null,
"transcript": "ENST00000442392.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "n.144A>G",
"hgvs_p": null,
"transcript": "ENST00000463471.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "n.309A>G",
"hgvs_p": null,
"transcript": "ENST00000482074.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "n.158A>G",
"hgvs_p": null,
"transcript": "ENST00000496064.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14-AS1",
"gene_hgnc_id": 26966,
"hgvs_c": "n.298T>C",
"hgvs_p": null,
"transcript": "ENST00000829799.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14-AS1",
"gene_hgnc_id": 26966,
"hgvs_c": "n.84-18T>C",
"hgvs_p": null,
"transcript": "ENST00000416860.4",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14-AS1",
"gene_hgnc_id": 26966,
"hgvs_c": "n.56-18T>C",
"hgvs_p": null,
"transcript": "ENST00000452793.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TNFRSF14-AS1",
"gene_hgnc_id": 26966,
"hgvs_c": "n.72+263T>C",
"hgvs_p": null,
"transcript": "ENST00000829789.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TNFRSF14-AS1",
"gene_hgnc_id": 26966,
"hgvs_c": "n.83-57T>C",
"hgvs_p": null,
"transcript": "ENST00000829798.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14-AS1",
"gene_hgnc_id": 26966,
"hgvs_c": "n.36-18T>C",
"hgvs_p": null,
"transcript": "NR_037844.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"dbsnp": "rs4870",
"frequency_reference_population": 0.50052226,
"hom_count_reference_population": 204775,
"allele_count_reference_population": 802136,
"gnomad_exomes_af": 0.494869,
"gnomad_genomes_af": 0.554459,
"gnomad_exomes_ac": 717835,
"gnomad_genomes_ac": 84301,
"gnomad_exomes_homalt": 180450,
"gnomad_genomes_homalt": 24325,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000026974876163876615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.268,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355716.5",
"gene_symbol": "TNFRSF14",
"hgnc_id": 11912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000829799.1",
"gene_symbol": "TNFRSF14-AS1",
"hgnc_id": 26966,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.298T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}