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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: 8-143991945-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143991945&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143991945,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000837.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "NM_001009184.2",
"protein_id": "NP_001009184.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 371,
"cds_start": 560,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395068.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009184.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000395068.9",
"protein_id": "ENSP00000378507.4",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 371,
"cds_start": 560,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001009184.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395068.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000857587.1",
"protein_id": "ENSP00000527646.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 423,
"cds_start": 560,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857587.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000857582.1",
"protein_id": "ENSP00000527641.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 383,
"cds_start": 560,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857582.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "NM_000837.2",
"protein_id": "NP_000828.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 371,
"cds_start": 560,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000837.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000313269.5",
"protein_id": "ENSP00000314380.5",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 371,
"cds_start": 560,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313269.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000857578.1",
"protein_id": "ENSP00000527637.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 371,
"cds_start": 560,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857578.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000857588.1",
"protein_id": "ENSP00000527647.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 371,
"cds_start": 560,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857588.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000857589.1",
"protein_id": "ENSP00000527648.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 371,
"cds_start": 560,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857589.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Ala179Val",
"transcript": "ENST00000857580.1",
"protein_id": "ENSP00000527639.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 363,
"cds_start": 536,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857580.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Ala179Val",
"transcript": "ENST00000857585.1",
"protein_id": "ENSP00000527644.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 363,
"cds_start": 536,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857585.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Ala110Val",
"transcript": "ENST00000534791.5",
"protein_id": "ENSP00000435901.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 348,
"cds_start": 329,
"cds_end": null,
"cds_length": 1049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534791.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000857579.1",
"protein_id": "ENSP00000527638.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 560,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857579.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000529301.5",
"protein_id": "ENSP00000432706.1",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 273,
"cds_start": 560,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529301.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"transcript": "ENST00000527194.5",
"protein_id": "ENSP00000431217.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 183,
"cds_start": 125,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527194.5"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PARP10",
"gene_hgnc_id": 25895,
"hgvs_c": "c.-79-5507G>A",
"hgvs_p": null,
"transcript": "ENST00000857398.1",
"protein_id": "ENSP00000527457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": null,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857398.1"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PARP10",
"gene_hgnc_id": 25895,
"hgvs_c": "c.-79-5507G>A",
"hgvs_p": null,
"transcript": "ENST00000966741.1",
"protein_id": "ENSP00000636800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1016,
"cds_start": null,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.493-5C>T",
"hgvs_p": null,
"transcript": "ENST00000857583.1",
"protein_id": "ENSP00000527642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": null,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.493-5C>T",
"hgvs_p": null,
"transcript": "ENST00000857584.1",
"protein_id": "ENSP00000527643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": null,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857584.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.493-11C>T",
"hgvs_p": null,
"transcript": "ENST00000857581.1",
"protein_id": "ENSP00000527640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857581.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.493-11C>T",
"hgvs_p": null,
"transcript": "ENST00000857586.1",
"protein_id": "ENSP00000527645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857586.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"hgvs_c": "c.159+141C>T",
"hgvs_p": null,
"transcript": "ENST00000533044.5",
"protein_id": "ENSP00000432095.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533044.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"feature": "ENST00000530478.5"
},
{
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"protein_coding": true,
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],
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"feature": "XM_047422327.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "PARP10",
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"hgvs_c": "c.-80+3605G>A",
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"transcript": "XM_011517336.4",
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"feature": "XM_011517336.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"transcript": "XM_047422328.1",
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"biotype": "protein_coding",
"feature": "XM_047422328.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"gene_symbol": "GRINA",
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"biotype": "retained_intron",
"feature": "ENST00000525513.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
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"gene_symbol": "GRINA",
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"transcript": "ENST00000531992.1",
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"biotype": "retained_intron",
"feature": "ENST00000531992.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "GRINA",
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"hgvs_c": "n.-229C>T",
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"transcript": "ENST00000533377.1",
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"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": "ENST00000533377.1"
}
],
"gene_symbol": "GRINA",
"gene_hgnc_id": 4589,
"dbsnp": "rs200050797",
"frequency_reference_population": 0.00000805636,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000821143,
"gnomad_genomes_af": 0.00000656797,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0801801085472107,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.0976,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.709,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000837.2",
"gene_symbol": "GRINA",
"hgnc_id": 4589,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000530478.5",
"gene_symbol": "PARP10",
"hgnc_id": 25895,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-79-5507G>A",
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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
}