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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: 3-134159307-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134159307&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134159307,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001005861.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.Pro548Ser",
"transcript": "NM_002958.4",
"protein_id": "NP_002949.2",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 607,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000623711.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002958.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.Pro548Ser",
"transcript": "ENST00000623711.4",
"protein_id": "ENSP00000485095.1",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 607,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002958.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623711.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Pro551Ser",
"transcript": "ENST00000620660.4",
"protein_id": "ENSP00000478721.1",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 610,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620660.4"
},
{
"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": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "n.4069C>T",
"hgvs_p": null,
"transcript": "ENST00000473208.5",
"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": "ENST00000473208.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.Pro570Ser",
"transcript": "ENST00000946535.1",
"protein_id": "ENSP00000616594.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 629,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946535.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1699C>T",
"hgvs_p": "p.Pro567Ser",
"transcript": "ENST00000912304.1",
"protein_id": "ENSP00000582363.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 626,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912304.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Pro551Ser",
"transcript": "NM_001005861.3",
"protein_id": "NP_001005861.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 610,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005861.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Pro551Ser",
"transcript": "ENST00000907584.1",
"protein_id": "ENSP00000577643.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 610,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907584.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Pro551Ser",
"transcript": "ENST00000912303.1",
"protein_id": "ENSP00000582362.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 610,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912303.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.Pro548Ser",
"transcript": "ENST00000907585.1",
"protein_id": "ENSP00000577644.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 607,
"cds_start": 1642,
"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": "ENST00000907585.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1564C>T",
"hgvs_p": "p.Pro522Ser",
"transcript": "ENST00000946538.1",
"protein_id": "ENSP00000616597.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 581,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946538.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Pro519Ser",
"transcript": "ENST00000912307.1",
"protein_id": "ENSP00000582366.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 578,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912307.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Pro506Ser",
"transcript": "ENST00000912305.1",
"protein_id": "ENSP00000582364.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 565,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912305.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Pro496Ser",
"transcript": "ENST00000946539.1",
"protein_id": "ENSP00000616598.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 555,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946539.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Pro488Ser",
"transcript": "ENST00000946530.1",
"protein_id": "ENSP00000616589.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 547,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946530.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1453C>T",
"hgvs_p": "p.Pro485Ser",
"transcript": "ENST00000946529.1",
"protein_id": "ENSP00000616588.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 544,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946529.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Pro466Ser",
"transcript": "ENST00000946532.1",
"protein_id": "ENSP00000616591.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 525,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946532.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Pro448Ser",
"transcript": "ENST00000946540.1",
"protein_id": "ENSP00000616599.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 507,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946540.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Pro424Ser",
"transcript": "ENST00000946536.1",
"protein_id": "ENSP00000616595.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 483,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946536.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1216C>T",
"hgvs_p": "p.Pro406Ser",
"transcript": "ENST00000912306.1",
"protein_id": "ENSP00000582365.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 465,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912306.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Pro403Ser",
"transcript": "ENST00000946531.1",
"protein_id": "ENSP00000616590.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 462,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946531.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Pro395Ser",
"transcript": "ENST00000946537.1",
"protein_id": "ENSP00000616596.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 454,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946537.1"
},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": false,
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],
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{
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],
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},
{
"aa_ref": "P",
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"missense_variant"
],
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"gene_symbol": "RYK",
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"transcript": "ENST00000946541.1",
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"feature": "ENST00000946541.1"
},
{
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"protein_coding": true,
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"missense_variant"
],
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"hgvs_c": "c.859C>T",
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"transcript": "ENST00000946533.1",
"protein_id": "ENSP00000616592.1",
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"biotype": "protein_coding",
"feature": "ENST00000946533.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RYK",
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"transcript": "ENST00000486725.1",
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{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"gene_symbol": "RYK",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486725.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "RYK",
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"hgvs_c": "n.435+16302C>T",
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"transcript": "ENST00000484106.3",
"protein_id": "ENSP00000487023.1",
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"cds_end": null,
"cds_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484106.3"
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],
"gene_symbol": "RYK",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8726492524147034,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.731,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9726,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001005861.3",
"gene_symbol": "RYK",
"hgnc_id": 10481,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Pro551Ser"
}
],
"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
}