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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-6333387-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6333387&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6333387,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001065.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "NM_001065.4",
"protein_id": "NP_001056.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 455,
"cds_start": 452,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": "ENST00000162749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001065.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000162749.7",
"protein_id": "ENSP00000162749.2",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 455,
"cds_start": 452,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": "NM_001065.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000162749.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "ENST00000540022.5",
"protein_id": "ENSP00000438343.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 412,
"cds_start": 323,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540022.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "n.486A>G",
"hgvs_p": null,
"transcript": "ENST00000366159.9",
"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": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000366159.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "n.298A>G",
"hgvs_p": null,
"transcript": "ENST00000534885.5",
"protein_id": "ENSP00000441803.1",
"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": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534885.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000440083.7",
"protein_id": "ENSP00000413224.3",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 528,
"cds_start": 452,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440083.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000898687.1",
"protein_id": "ENSP00000568746.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 452,
"cds_start": 452,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898687.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Asn140Ser",
"transcript": "ENST00000898688.1",
"protein_id": "ENSP00000568747.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 444,
"cds_start": 419,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898688.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000947892.1",
"protein_id": "ENSP00000617951.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 429,
"cds_start": 452,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947892.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000947893.1",
"protein_id": "ENSP00000617952.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 404,
"cds_start": 452,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947893.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000898689.1",
"protein_id": "ENSP00000568748.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 386,
"cds_start": 452,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898689.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000898686.1",
"protein_id": "ENSP00000568745.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 349,
"cds_start": 452,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898686.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.128A>G",
"hgvs_p": "p.Asn43Ser",
"transcript": "NM_001346091.2",
"protein_id": "NP_001333020.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 347,
"cds_start": 128,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346091.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000947891.1",
"protein_id": "ENSP00000617950.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 336,
"cds_start": 452,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947891.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"transcript": "ENST00000539372.5",
"protein_id": "ENSP00000442059.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 297,
"cds_start": 452,
"cds_end": null,
"cds_length": 895,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539372.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "c.-126A>G",
"hgvs_p": null,
"transcript": "NM_001346092.2",
"protein_id": "NP_001333021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346092.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "n.452A>G",
"hgvs_p": null,
"transcript": "ENST00000437813.8",
"protein_id": "ENSP00000513672.1",
"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": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000437813.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "n.*279A>G",
"hgvs_p": null,
"transcript": "ENST00000535958.2",
"protein_id": "ENSP00000513673.1",
"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": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000535958.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "n.56A>G",
"hgvs_p": null,
"transcript": "ENST00000537842.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 404,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000537842.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "n.*63A>G",
"hgvs_p": null,
"transcript": "ENST00000543048.5",
"protein_id": "ENSP00000439981.1",
"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": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000543048.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "n.*39A>G",
"hgvs_p": null,
"transcript": "ENST00000543995.5",
"protein_id": "ENSP00000442405.1",
"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": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000543995.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1A",
"gene_hgnc_id": 11916,
"hgvs_c": "n.452A>G",
"hgvs_p": null,
"transcript": "ENST00000698339.1",
"protein_id": "ENSP00000513670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
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{
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{
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],
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{
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],
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},
{
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"protein_coding": false,
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{
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"feature": "ENST00000543995.5"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "TNFRSF1A",
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"transcript": "ENST00000536194.1",
"protein_id": "ENSP00000442919.1",
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"biotype": "protein_coding",
"feature": "ENST00000536194.1"
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],
"gene_symbol": "TNFRSF1A",
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"dbsnp": "rs369875050",
"frequency_reference_population": 0.000024786465,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.000013684,
"gnomad_genomes_af": 0.000131391,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29819053411483765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.531,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.264,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001065.4",
"gene_symbol": "TNFRSF1A",
"hgnc_id": 11916,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser"
}
],
"clinvar_disease": "TNF receptor-associated periodic fever syndrome (TRAPS),TNFRSF1A-related disorder",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "TNF receptor-associated periodic fever syndrome (TRAPS)|TNFRSF1A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}