← 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: 17-68368663-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68368663&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68368663,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000621439.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "NM_001267727.2",
"protein_id": "NP_001254656.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": "ENST00000621439.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "ENST00000621439.5",
"protein_id": "ENSP00000480910.1",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": "NM_001267727.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "ENST00000448504.6",
"protein_id": "ENSP00000407193.2",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "NM_001352899.2",
"protein_id": "NP_001339828.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "NM_001352900.2",
"protein_id": "NP_001339829.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "NM_001352901.2",
"protein_id": "NP_001339830.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "NM_001352902.2",
"protein_id": "NP_001339831.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "NM_014960.5",
"protein_id": "NP_055775.2",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.817T>C",
"hgvs_p": "p.Trp273Arg",
"transcript": "NM_001352903.2",
"protein_id": "NP_001339832.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 524,
"cds_start": 817,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 4651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.817T>C",
"hgvs_p": "p.Trp273Arg",
"transcript": "NM_001352904.2",
"protein_id": "NP_001339833.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 524,
"cds_start": 817,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.817T>C",
"hgvs_p": "p.Trp273Arg",
"transcript": "NM_001352905.2",
"protein_id": "NP_001339834.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 524,
"cds_start": 817,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.817T>C",
"hgvs_p": "p.Trp273Arg",
"transcript": "NM_001352906.2",
"protein_id": "NP_001339835.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 524,
"cds_start": 817,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.817T>C",
"hgvs_p": "p.Trp273Arg",
"transcript": "NM_001352907.2",
"protein_id": "NP_001339836.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 524,
"cds_start": 817,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "NM_001352910.2",
"protein_id": "NP_001339839.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 461,
"cds_start": 820,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.772T>C",
"hgvs_p": "p.Trp258Arg",
"transcript": "NM_001352909.2",
"protein_id": "NP_001339838.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 445,
"cds_start": 772,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.328T>C",
"hgvs_p": "p.Trp110Arg",
"transcript": "ENST00000452479.6",
"protein_id": "ENSP00000413953.2",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 361,
"cds_start": 328,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_011524536.3",
"protein_id": "XP_011522838.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 552,
"cds_start": 820,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_011524537.2",
"protein_id": "XP_011522839.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 552,
"cds_start": 820,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 4636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_017024360.3",
"protein_id": "XP_016879849.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 552,
"cds_start": 820,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435632.1",
"protein_id": "XP_047291588.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 552,
"cds_start": 820,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435633.1",
"protein_id": "XP_047291589.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 552,
"cds_start": 820,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435634.1",
"protein_id": "XP_047291590.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 552,
"cds_start": 820,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435635.1",
"protein_id": "XP_047291591.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 552,
"cds_start": 820,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.817T>C",
"hgvs_p": "p.Trp273Arg",
"transcript": "XM_047435636.1",
"protein_id": "XP_047291592.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 551,
"cds_start": 817,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_017024365.2",
"protein_id": "XP_016879854.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435638.1",
"protein_id": "XP_047291594.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435639.1",
"protein_id": "XP_047291595.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435640.1",
"protein_id": "XP_047291596.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 525,
"cds_start": 820,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435637.1",
"protein_id": "XP_047291593.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 488,
"cds_start": 820,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435644.1",
"protein_id": "XP_047291600.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 461,
"cds_start": 820,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435645.1",
"protein_id": "XP_047291601.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 461,
"cds_start": 820,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435646.1",
"protein_id": "XP_047291602.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 461,
"cds_start": 820,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435641.1",
"protein_id": "XP_047291597.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 435,
"cds_start": 820,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435642.1",
"protein_id": "XP_047291598.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 427,
"cds_start": 820,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435643.1",
"protein_id": "XP_047291599.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 427,
"cds_start": 820,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435647.1",
"protein_id": "XP_047291603.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 427,
"cds_start": 820,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_017024368.2",
"protein_id": "XP_016879857.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 413,
"cds_start": 820,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435648.1",
"protein_id": "XP_047291604.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 413,
"cds_start": 820,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435649.1",
"protein_id": "XP_047291605.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 413,
"cds_start": 820,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.328T>C",
"hgvs_p": "p.Trp110Arg",
"transcript": "XM_047435650.1",
"protein_id": "XP_047291606.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 361,
"cds_start": 328,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435651.1",
"protein_id": "XP_047291607.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 344,
"cds_start": 820,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435653.1",
"protein_id": "XP_047291609.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 344,
"cds_start": 820,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435654.1",
"protein_id": "XP_047291610.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 344,
"cds_start": 820,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435652.1",
"protein_id": "XP_047291608.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 329,
"cds_start": 820,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg",
"transcript": "XM_047435655.1",
"protein_id": "XP_047291611.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 329,
"cds_start": 820,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Trp25Arg",
"transcript": "XM_011524546.3",
"protein_id": "XP_011522848.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 303,
"cds_start": 73,
"cds_end": null,
"cds_length": 912,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "n.578T>C",
"hgvs_p": null,
"transcript": "ENST00000582154.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "n.1445T>C",
"hgvs_p": null,
"transcript": "XR_007065287.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"dbsnp": "rs1558878",
"frequency_reference_population": 0.47115946,
"hom_count_reference_population": 182582,
"allele_count_reference_population": 760065,
"gnomad_exomes_af": 0.474866,
"gnomad_genomes_af": 0.43559,
"gnomad_exomes_ac": 693749,
"gnomad_genomes_ac": 66316,
"gnomad_exomes_homalt": 167643,
"gnomad_genomes_homalt": 14939,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00005887313818675466,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0489,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.255,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000621439.5",
"gene_symbol": "ARSG",
"hgnc_id": 24102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Trp274Arg"
}
],
"clinvar_disease": " type 4,Usher syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Usher syndrome, type 4",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}