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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: X-131274090-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=131274090&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 131274090,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001170961.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "NM_001555.5",
"protein_id": "NP_001546.2",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361420.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001555.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "ENST00000361420.8",
"protein_id": "ENSP00000355010.3",
"transcript_support_level": 1,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001555.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361420.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3883C>G",
"hgvs_p": "p.Arg1295Gly",
"transcript": "ENST00000370903.8",
"protein_id": "ENSP00000359940.3",
"transcript_support_level": 1,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370903.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3841C>G",
"hgvs_p": "p.Arg1281Gly",
"transcript": "ENST00000370910.5",
"protein_id": "ENSP00000359947.1",
"transcript_support_level": 1,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3841,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370910.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3883C>G",
"hgvs_p": "p.Arg1295Gly",
"transcript": "NM_001170961.2",
"protein_id": "NP_001164432.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170961.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3883C>G",
"hgvs_p": "p.Arg1295Gly",
"transcript": "NM_001438811.1",
"protein_id": "NP_001425740.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438811.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "NM_001438812.1",
"protein_id": "NP_001425741.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438812.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "NM_001438813.1",
"protein_id": "NP_001425742.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438813.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "ENST00000651556.1",
"protein_id": "ENSP00000498789.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651556.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "ENST00000930398.1",
"protein_id": "ENSP00000600457.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930398.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "ENST00000966718.1",
"protein_id": "ENSP00000636777.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966718.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "ENST00000966719.1",
"protein_id": "ENSP00000636778.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966719.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3841C>G",
"hgvs_p": "p.Arg1281Gly",
"transcript": "NM_001170962.2",
"protein_id": "NP_001164433.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3841,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170962.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3841C>G",
"hgvs_p": "p.Arg1281Gly",
"transcript": "ENST00000370904.6",
"protein_id": "ENSP00000359941.1",
"transcript_support_level": 2,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3841,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370904.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3634C>G",
"hgvs_p": "p.Arg1212Gly",
"transcript": "NM_001438814.1",
"protein_id": "NP_001425743.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3634,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438814.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3619C>G",
"hgvs_p": "p.Arg1207Gly",
"transcript": "NM_001438815.1",
"protein_id": "NP_001425744.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3619,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438815.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3580C>G",
"hgvs_p": "p.Arg1194Gly",
"transcript": "ENST00000652189.1",
"protein_id": "ENSP00000498607.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3580,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652189.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3484C>G",
"hgvs_p": "p.Arg1162Gly",
"transcript": "ENST00000864056.1",
"protein_id": "ENSP00000534115.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3484,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864056.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "ENST00000651402.1",
"protein_id": "ENSP00000498744.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 181,
"cds_start": 403,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651402.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3883C>G",
"hgvs_p": "p.Arg1295Gly",
"transcript": "XM_047442085.1",
"protein_id": "XP_047298041.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442085.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3307C>G",
"hgvs_p": "p.Arg1103Gly",
"transcript": "XM_011531334.3",
"protein_id": "XP_011529636.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3307,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531334.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "n.2270C>G",
"hgvs_p": null,
"transcript": "ENST00000651526.1",
"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,
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{
"aa_ref": null,
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"biotype": "pseudogene",
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{
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"canonical": false,
"protein_coding": true,
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"downstream_gene_variant"
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"gene_symbol": "IGSF1",
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],
"gene_symbol": "IGSF1",
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"dbsnp": "rs749977306",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_genomes_af": 0.0000089794,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5831801295280457,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.2469,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.287,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
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"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": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001170961.2",
"gene_symbol": "IGSF1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
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"hgvs_p": "p.Arg1295Gly"
},
{
"score": 2,
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"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000773800.1",
"gene_symbol": "ENSG00000287806",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.560+54617G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}