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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: 14-105478979-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105478979&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105478979,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001270837.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "NM_001312.4",
"protein_id": "NP_001303.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 208,
"cds_start": 338,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329146.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000329146.9",
"protein_id": "ENSP00000328521.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 208,
"cds_start": 338,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001312.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329146.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.1133C>T",
"hgvs_p": null,
"transcript": "ENST00000548309.1",
"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": "pseudogene",
"feature": "ENST00000548309.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "NM_001270837.2",
"protein_id": "NP_001257766.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 282,
"cds_start": 560,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270837.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000483017.7",
"protein_id": "ENSP00000426119.2",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 282,
"cds_start": 560,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483017.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000852172.1",
"protein_id": "ENSP00000522231.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 229,
"cds_start": 338,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852172.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000942978.1",
"protein_id": "ENSP00000613037.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 221,
"cds_start": 338,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942978.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000942977.1",
"protein_id": "ENSP00000613036.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 207,
"cds_start": 338,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942977.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Ala109Val",
"transcript": "ENST00000852175.1",
"protein_id": "ENSP00000522234.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 204,
"cds_start": 326,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852175.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000942976.1",
"protein_id": "ENSP00000613035.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 204,
"cds_start": 338,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942976.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"transcript": "ENST00000942980.1",
"protein_id": "ENSP00000613039.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 199,
"cds_start": 311,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942980.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000852173.1",
"protein_id": "ENSP00000522232.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 194,
"cds_start": 338,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852173.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000538259.2",
"protein_id": "ENSP00000437723.2",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 191,
"cds_start": 287,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538259.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"transcript": "ENST00000942979.1",
"protein_id": "ENSP00000613038.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 161,
"cds_start": 197,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942979.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000942981.1",
"protein_id": "ENSP00000613040.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 110,
"cds_start": 44,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.92-146C>T",
"hgvs_p": null,
"transcript": "ENST00000550577.5",
"protein_id": "ENSP00000446875.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550577.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.44-146C>T",
"hgvs_p": null,
"transcript": "NM_001270841.2",
"protein_id": "NP_001257770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270841.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "c.139-457C>T",
"hgvs_p": null,
"transcript": "ENST00000852174.1",
"protein_id": "ENSP00000522233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852174.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.369C>T",
"hgvs_p": null,
"transcript": "ENST00000547643.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547643.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.1179C>T",
"hgvs_p": null,
"transcript": "ENST00000548989.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000548989.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.281C>T",
"hgvs_p": null,
"transcript": "ENST00000551738.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIP2",
"gene_hgnc_id": 2361,
"hgvs_c": "n.467C>T",
"hgvs_p": null,
"transcript": "ENST00000551836.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
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"gene_symbol": "CRIP2",
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"biotype": "pseudogene",
"feature": "NR_073081.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "CRIP2",
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"transcript": "NR_073082.2",
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"biotype": "pseudogene",
"feature": "NR_073082.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
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"gene_symbol": "CRIP2",
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"biotype": "pseudogene",
"feature": "NR_073083.2"
},
{
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"protein_coding": false,
"strand": true,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 8,
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"gene_symbol": "CRIP2",
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"transcript": "NR_073084.1",
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"biotype": "pseudogene",
"feature": "NR_073084.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"gene_symbol": "CRIP2",
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"hgvs_c": "n.654C>T",
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"biotype": "pseudogene",
"feature": "NR_073085.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "CRIP2",
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"hgvs_c": "n.*203C>T",
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"transcript": "ENST00000548923.5",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000548923.5"
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],
"gene_symbol": "CRIP2",
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"dbsnp": "rs1468956570",
"frequency_reference_population": 0.000022292226,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000239739,
"gnomad_genomes_af": 0.00000658562,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4946953356266022,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6119999885559082,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.179,
"revel_prediction": "Benign",
"alphamissense_score": 0.1521,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.47,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.186986318200769,
"dbscsnv_ada_prediction": "Benign",
"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_001270837.2",
"gene_symbol": "CRIP2",
"hgnc_id": 2361,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val"
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],
"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
}