← Back to variant description
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: 1-160092510-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160092510&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160092510,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_052868.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "NM_052868.6",
"protein_id": "NP_443100.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314485.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052868.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000314485.12",
"protein_id": "ENSP00000316664.7",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052868.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314485.12"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000368086.5",
"protein_id": "ENSP00000357065.1",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368086.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000614243.4",
"protein_id": "ENSP00000477565.1",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614243.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "NM_001206665.2",
"protein_id": "NP_001193594.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206665.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "NM_001320247.2",
"protein_id": "NP_001307176.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320247.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000883984.1",
"protein_id": "ENSP00000554043.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883984.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000883985.1",
"protein_id": "ENSP00000554044.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883985.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000883986.1",
"protein_id": "ENSP00000554045.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883986.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000883988.1",
"protein_id": "ENSP00000554047.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883988.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000918092.1",
"protein_id": "ENSP00000588151.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918092.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000942049.1",
"protein_id": "ENSP00000612108.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942049.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000942050.1",
"protein_id": "ENSP00000612109.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942050.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Val497Ile",
"transcript": "ENST00000918090.1",
"protein_id": "ENSP00000588149.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 610,
"cds_start": 1489,
"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": "ENST00000918090.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Val406Ile",
"transcript": "ENST00000883991.1",
"protein_id": "ENSP00000554050.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 519,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883991.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Val374Ile",
"transcript": "ENST00000918089.1",
"protein_id": "ENSP00000588148.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 487,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918089.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Val374Ile",
"transcript": "ENST00000918094.1",
"protein_id": "ENSP00000588153.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 487,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918094.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Ile",
"transcript": "ENST00000918093.1",
"protein_id": "ENSP00000588152.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 477,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918093.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Val346Ile",
"transcript": "ENST00000942051.1",
"protein_id": "ENSP00000612110.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 459,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942051.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Val220Ile",
"transcript": "ENST00000918095.1",
"protein_id": "ENSP00000588154.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 333,
"cds_start": 658,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918095.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Ile",
"transcript": "ENST00000883987.1",
"protein_id": "ENSP00000554046.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 323,
"cds_start": 628,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883987.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Val84Ile",
"transcript": "ENST00000883989.1",
"protein_id": "ENSP00000554048.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 197,
"cds_start": 250,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883989.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Val84Ile",
"transcript": "ENST00000883990.1",
"protein_id": "ENSP00000554049.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 197,
"cds_start": 250,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883990.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Val84Ile",
"transcript": "ENST00000918091.1",
"protein_id": "ENSP00000588150.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 197,
"cds_start": 250,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918091.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "XM_017002835.2",
"protein_id": "XP_016858324.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002835.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "XM_017002836.2",
"protein_id": "XP_016858325.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002836.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "XM_017002837.2",
"protein_id": "XP_016858326.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 613,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002837.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Val483Ile",
"transcript": "XM_024450945.2",
"protein_id": "XP_024306713.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 596,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450945.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "XM_017002839.2",
"protein_id": "XP_016858328.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 591,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002839.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "XM_024450947.2",
"protein_id": "XP_024306715.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 591,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450947.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "XM_047434554.1",
"protein_id": "XP_047290510.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 591,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434554.1"
}
],
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"dbsnp": "rs561389264",
"frequency_reference_population": 0.00015247814,
"hom_count_reference_population": 1,
"allele_count_reference_population": 246,
"gnomad_exomes_af": 0.000159483,
"gnomad_genomes_af": 0.0000853164,
"gnomad_exomes_ac": 233,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02386656403541565,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.776,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_052868.6",
"gene_symbol": "IGSF8",
"hgnc_id": 17813,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile"
}
],
"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
}