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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: 15-74133032-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74133032&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74133032,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020851.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "NM_020851.3",
"protein_id": "NP_065902.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000453268.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020851.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000453268.3",
"protein_id": "ENSP00000411834.2",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020851.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453268.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000361742.7",
"protein_id": "ENSP00000355402.3",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361742.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "NM_001130136.1",
"protein_id": "NP_001123608.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130136.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "NM_001130137.1",
"protein_id": "NP_001123609.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130137.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "NM_001130138.2",
"protein_id": "NP_001123610.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130138.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000435464.5",
"protein_id": "ENSP00000411443.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435464.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000565159.5",
"protein_id": "ENSP00000455531.1",
"transcript_support_level": 3,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565159.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000565540.1",
"protein_id": "ENSP00000458080.1",
"transcript_support_level": 4,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565540.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000938681.1",
"protein_id": "ENSP00000608740.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938681.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000960910.1",
"protein_id": "ENSP00000630969.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960910.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000960911.1",
"protein_id": "ENSP00000630970.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960911.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000561740.5",
"protein_id": "ENSP00000455076.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 137,
"cds_start": 278,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561740.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "ENST00000565332.1",
"protein_id": "ENSP00000454259.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 113,
"cds_start": 278,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565332.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_011521840.4",
"protein_id": "XP_011520142.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521840.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_011521841.2",
"protein_id": "XP_011520143.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521841.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_024450003.2",
"protein_id": "XP_024305771.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450003.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_024450004.2",
"protein_id": "XP_024305772.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450004.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_024450005.2",
"protein_id": "XP_024305773.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450005.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_024450006.2",
"protein_id": "XP_024305774.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450006.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_024450007.2",
"protein_id": "XP_024305775.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450007.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_024450008.2",
"protein_id": "XP_024305776.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450008.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_047432905.1",
"protein_id": "XP_047288861.1",
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"aa_start": 93,
"aa_end": null,
"aa_length": 745,
"cds_start": 278,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432905.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala",
"transcript": "XM_017022446.3",
"protein_id": "XP_016877935.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 468,
"cds_start": 278,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022446.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "n.464G>C",
"hgvs_p": null,
"transcript": "XR_931875.4",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_931875.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "n.338+1716G>C",
"hgvs_p": null,
"transcript": "ENST00000561975.5",
"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": "pseudogene",
"feature": "ENST00000561975.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"hgvs_c": "c.*10G>C",
"hgvs_p": null,
"transcript": "ENST00000569886.5",
"protein_id": "ENSP00000454287.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": null,
"cds_end": null,
"cds_length": 268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569886.5"
}
],
"gene_symbol": "ISLR2",
"gene_hgnc_id": 29286,
"dbsnp": "rs748457865",
"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": 0.581246554851532,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.335,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.364,
"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": 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_020851.3",
"gene_symbol": "ISLR2",
"hgnc_id": 29286,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Gly93Ala"
}
],
"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
}