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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: 15-52584871-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52584871&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52584871,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286495.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "NM_001385016.1",
"protein_id": "NP_001371945.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": "ENST00000619572.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385016.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "ENST00000619572.5",
"protein_id": "ENSP00000484641.1",
"transcript_support_level": 1,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": "NM_001385016.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619572.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "ENST00000261844.11",
"protein_id": "ENSP00000261844.7",
"transcript_support_level": 1,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3104,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261844.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000399202.8",
"protein_id": "ENSP00000382153.4",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 937,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2815,
"cdna_start": 2920,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399202.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "n.453A>G",
"hgvs_p": null,
"transcript": "ENST00000568871.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000568871.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2972A>G",
"hgvs_p": "p.Asn991Ser",
"transcript": "NM_001286495.2",
"protein_id": "NP_001273424.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2972,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3106,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286495.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2972A>G",
"hgvs_p": "p.Asn991Ser",
"transcript": "NM_001385019.1",
"protein_id": "NP_001371948.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2972,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3163,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385019.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2972A>G",
"hgvs_p": "p.Asn991Ser",
"transcript": "ENST00000546305.6",
"protein_id": "ENSP00000443598.2",
"transcript_support_level": 2,
"aa_start": 991,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2972,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546305.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "NM_001385013.1",
"protein_id": "NP_001371942.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3142,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385013.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "NM_001385014.1",
"protein_id": "NP_001371943.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3259,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385014.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "NM_001385015.1",
"protein_id": "NP_001371944.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385015.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "NM_001385017.1",
"protein_id": "NP_001371946.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3106,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385017.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "NM_001385018.1",
"protein_id": "NP_001371947.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385018.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "NM_019600.4",
"protein_id": "NP_062546.2",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019600.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "ENST00000899912.1",
"protein_id": "ENSP00000569971.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 4020,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899912.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "ENST00000922188.1",
"protein_id": "ENSP00000592247.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3362,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922188.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "ENST00000922189.1",
"protein_id": "ENSP00000592248.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3205,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922189.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "ENST00000946907.1",
"protein_id": "ENSP00000616966.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3535,
"cdna_end": null,
"cdna_length": 4636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946907.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asn984Ser",
"transcript": "ENST00000946908.1",
"protein_id": "ENSP00000616967.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946908.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2903A>G",
"hgvs_p": "p.Asn968Ser",
"transcript": "NM_001385020.1",
"protein_id": "NP_001371949.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 3037,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385020.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2762A>G",
"hgvs_p": "p.Asn921Ser",
"transcript": "NM_001385021.1",
"protein_id": "NP_001371950.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2762,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385021.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "NM_001385022.1",
"protein_id": "NP_001371951.1",
"transcript_support_level": null,
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"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169552.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "n.*154A>G",
"hgvs_p": null,
"transcript": "ENST00000534964.6",
"protein_id": "ENSP00000444447.2",
"transcript_support_level": 2,
"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": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534964.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260618",
"gene_hgnc_id": null,
"hgvs_c": "n.-36T>C",
"hgvs_p": null,
"transcript": "ENST00000566344.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 635,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000566344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "n.*289A>G",
"hgvs_p": null,
"transcript": "ENST00000570204.1",
"protein_id": "ENSP00000455002.1",
"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": 393,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000570204.1"
}
],
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"dbsnp": "rs1182888615",
"frequency_reference_population": 6.8436714e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84367e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1097874641418457,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0736,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.738,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286495.2",
"gene_symbol": "ATOSA",
"hgnc_id": 25609,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2972A>G",
"hgvs_p": "p.Asn991Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000562062.1",
"gene_symbol": "ENSG00000260618",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.273T>C",
"hgvs_p": null
}
],
"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
}