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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: 3-134191929-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134191929&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134191929,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001005861.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.935C>G",
"hgvs_p": "p.Thr312Ser",
"transcript": "NM_002958.4",
"protein_id": "NP_002949.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 607,
"cds_start": 935,
"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": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.935C>G",
"hgvs_p": "p.Thr312Ser",
"transcript": "ENST00000623711.4",
"protein_id": "ENSP00000485095.1",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 607,
"cds_start": 935,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.944C>G",
"hgvs_p": "p.Thr315Ser",
"transcript": "ENST00000620660.4",
"protein_id": "ENSP00000478721.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 610,
"cds_start": 944,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1001C>G",
"hgvs_p": "p.Thr334Ser",
"transcript": "ENST00000946535.1",
"protein_id": "ENSP00000616594.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 629,
"cds_start": 1001,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Thr331Ser",
"transcript": "ENST00000912304.1",
"protein_id": "ENSP00000582363.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 626,
"cds_start": 992,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.944C>G",
"hgvs_p": "p.Thr315Ser",
"transcript": "NM_001005861.3",
"protein_id": "NP_001005861.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 610,
"cds_start": 944,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.944C>G",
"hgvs_p": "p.Thr315Ser",
"transcript": "ENST00000907584.1",
"protein_id": "ENSP00000577643.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 610,
"cds_start": 944,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.944C>G",
"hgvs_p": "p.Thr315Ser",
"transcript": "ENST00000912303.1",
"protein_id": "ENSP00000582362.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 610,
"cds_start": 944,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.935C>G",
"hgvs_p": "p.Thr312Ser",
"transcript": "ENST00000907585.1",
"protein_id": "ENSP00000577644.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 607,
"cds_start": 935,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.944C>G",
"hgvs_p": "p.Thr315Ser",
"transcript": "ENST00000946538.1",
"protein_id": "ENSP00000616597.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 581,
"cds_start": 944,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.935C>G",
"hgvs_p": "p.Thr312Ser",
"transcript": "ENST00000912307.1",
"protein_id": "ENSP00000582366.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 578,
"cds_start": 935,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Thr252Ser",
"transcript": "ENST00000946539.1",
"protein_id": "ENSP00000616598.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 555,
"cds_start": 755,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Thr252Ser",
"transcript": "ENST00000946530.1",
"protein_id": "ENSP00000616589.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 547,
"cds_start": 755,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Thr249Ser",
"transcript": "ENST00000946529.1",
"protein_id": "ENSP00000616588.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 544,
"cds_start": 746,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.689C>G",
"hgvs_p": "p.Thr230Ser",
"transcript": "ENST00000946532.1",
"protein_id": "ENSP00000616591.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 525,
"cds_start": 689,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Thr212Ser",
"transcript": "ENST00000946540.1",
"protein_id": "ENSP00000616599.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 635,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.500C>G",
"hgvs_p": "p.Thr167Ser",
"transcript": "ENST00000946531.1",
"protein_id": "ENSP00000616590.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 462,
"cds_start": 500,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.278C>G",
"hgvs_p": "p.Thr93Ser",
"transcript": "ENST00000946541.1",
"protein_id": "ENSP00000616600.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 388,
"cds_start": 278,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.890-3006C>G",
"hgvs_p": null,
"transcript": "ENST00000912305.1",
"protein_id": "ENSP00000582364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.644-3006C>G",
"hgvs_p": null,
"transcript": "ENST00000946536.1",
"protein_id": "ENSP00000616595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.590-3006C>G",
"hgvs_p": null,
"transcript": "ENST00000912306.1",
"protein_id": "ENSP00000582365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.644-8858C>G",
"hgvs_p": null,
"transcript": "ENST00000946537.1",
"protein_id": "ENSP00000616596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"transcript": "ENST00000946534.1",
"protein_id": "ENSP00000616593.1",
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"aa_end": null,
"aa_length": 420,
"cds_start": null,
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"cds_length": 1263,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946534.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "RYK",
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"hgvs_c": "c.455-8858C>G",
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"transcript": "ENST00000946542.1",
"protein_id": "ENSP00000616601.1",
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"aa_end": null,
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"cds_start": null,
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"cds_length": 1176,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946542.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "RYK",
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"hgvs_c": "c.233-3006C>G",
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"transcript": "ENST00000946533.1",
"protein_id": "ENSP00000616592.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"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"
],
"exon_rank": 2,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
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"hgvs_c": "n.304C>G",
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"transcript": "ENST00000480381.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000480381.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 12,
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"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "n.1149C>G",
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"transcript": "XR_007095716.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095716.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "n.-14C>G",
"hgvs_p": null,
"transcript": "ENST00000486725.1",
"protein_id": "ENSP00000417836.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486725.1"
}
],
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"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": 0.6134143471717834,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.283,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.526,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001005861.3",
"gene_symbol": "RYK",
"hgnc_id": 10481,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.944C>G",
"hgvs_p": "p.Thr315Ser"
}
],
"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
}