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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: 15-55842102-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=55842102&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 55842102,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001284338.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Tyr557Cys",
"transcript": "NM_006154.4",
"protein_id": "NP_006145.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 900,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000435532.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006154.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Tyr557Cys",
"transcript": "ENST00000435532.8",
"protein_id": "ENSP00000410613.3",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 900,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006154.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435532.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2927A>G",
"hgvs_p": "p.Tyr976Cys",
"transcript": "ENST00000508342.5",
"protein_id": "ENSP00000424827.1",
"transcript_support_level": 1,
"aa_start": 976,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2927,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508342.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Tyr960Cys",
"transcript": "ENST00000506154.1",
"protein_id": "ENSP00000422705.1",
"transcript_support_level": 1,
"aa_start": 960,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506154.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2711A>G",
"hgvs_p": "p.Tyr904Cys",
"transcript": "ENST00000338963.6",
"protein_id": "ENSP00000345530.2",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2711,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338963.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.Tyr566Cys",
"transcript": "ENST00000508871.5",
"protein_id": "ENSP00000422455.1",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 909,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508871.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*1248A>G",
"hgvs_p": null,
"transcript": "ENST00000503468.5",
"protein_id": "ENSP00000426051.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*1248A>G",
"hgvs_p": null,
"transcript": "ENST00000503468.5",
"protein_id": "ENSP00000426051.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503468.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2927A>G",
"hgvs_p": "p.Tyr976Cys",
"transcript": "NM_001284338.2",
"protein_id": "NP_001271267.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2927,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284338.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Tyr960Cys",
"transcript": "NM_001284339.1",
"protein_id": "NP_001271268.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284339.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2876A>G",
"hgvs_p": "p.Tyr959Cys",
"transcript": "NM_001284340.1",
"protein_id": "NP_001271269.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1302,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284340.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2711A>G",
"hgvs_p": "p.Tyr904Cys",
"transcript": "NM_198400.3",
"protein_id": "NP_940682.2",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2711,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198400.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Tyr540Cys",
"transcript": "ENST00000954479.1",
"protein_id": "ENSP00000624538.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 883,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954479.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Tyr557Cys",
"transcript": "ENST00000911097.1",
"protein_id": "ENSP00000581156.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 880,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911097.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1604A>G",
"hgvs_p": "p.Tyr535Cys",
"transcript": "ENST00000911094.1",
"protein_id": "ENSP00000581153.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 878,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911094.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1604A>G",
"hgvs_p": "p.Tyr535Cys",
"transcript": "ENST00000911096.1",
"protein_id": "ENSP00000581155.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 878,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911096.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1556A>G",
"hgvs_p": "p.Tyr519Cys",
"transcript": "ENST00000911098.1",
"protein_id": "ENSP00000581157.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 862,
"cds_start": 1556,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911098.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Tyr517Cys",
"transcript": "ENST00000932730.1",
"protein_id": "ENSP00000602789.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 860,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932730.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Tyr502Cys",
"transcript": "ENST00000954480.1",
"protein_id": "ENSP00000624539.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 845,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954480.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Tyr557Cys",
"transcript": "ENST00000911095.1",
"protein_id": "ENSP00000581154.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 844,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911095.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1229A>G",
"hgvs_p": "p.Tyr410Cys",
"transcript": "NM_001329212.2",
"protein_id": "NP_001316141.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 753,
"cds_start": 1229,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329212.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1595A>G",
"hgvs_p": "p.Tyr532Cys",
"transcript": "XM_011521624.4",
"protein_id": "XP_011519926.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 875,
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},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
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],
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},
{
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"protein_coding": true,
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],
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"transcript": "XM_011521626.2",
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"feature": "XM_011521626.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648451.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"transcript": "NR_104302.2",
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"biotype": "pseudogene",
"feature": "NR_104302.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "NEDD4",
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"transcript": "ENST00000648451.1",
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648451.1"
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],
"gene_symbol": "NEDD4",
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"dbsnp": "rs150641951",
"frequency_reference_population": 0.000026641059,
"hom_count_reference_population": 1,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000253099,
"gnomad_genomes_af": 0.0000394291,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9651419520378113,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.897,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5364,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.191,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001284338.2",
"gene_symbol": "NEDD4",
"hgnc_id": 7727,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2927A>G",
"hgvs_p": "p.Tyr976Cys"
}
],
"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
}