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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-154487707-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154487707&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154487707,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019848.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "NM_019848.5",
"protein_id": "NP_062822.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651600.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019848.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000651600.1",
"protein_id": "ENSP00000499188.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019848.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651600.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"transcript": "ENST00000369649.8",
"protein_id": "ENSP00000358663.4",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 448,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369649.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Ala467Thr",
"transcript": "ENST00000393586.1",
"protein_id": "ENSP00000377211.1",
"transcript_support_level": 5,
"aa_start": 467,
"aa_end": null,
"aa_length": 532,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393586.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "NM_001142392.3",
"protein_id": "NP_001135864.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "NM_001142392.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000263512.5",
"protein_id": "ENSP00000263512.4",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000263512.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000393587.4",
"protein_id": "ENSP00000377212.4",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000393587.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000882890.1",
"protein_id": "ENSP00000552949.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000882890.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000882891.1",
"protein_id": "ENSP00000552950.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000882891.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000882892.1",
"protein_id": "ENSP00000552951.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000882892.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000882893.1",
"protein_id": "ENSP00000552952.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000882893.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000882894.1",
"protein_id": "ENSP00000552953.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000882894.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000882895.1",
"protein_id": "ENSP00000552954.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000882895.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000922672.1",
"protein_id": "ENSP00000592731.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000922672.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000922673.1",
"protein_id": "ENSP00000592732.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000922673.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000922674.1",
"protein_id": "ENSP00000592733.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "ENST00000922674.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"transcript": "NM_001142391.3",
"protein_id": "NP_001135863.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 448,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142391.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Ala505Thr",
"transcript": "XM_006724847.4",
"protein_id": "XP_006724910.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 570,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724847.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Ala476Thr",
"transcript": "XM_006724848.4",
"protein_id": "XP_006724911.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 541,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724848.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Ala467Thr",
"transcript": "XM_005277913.6",
"protein_id": "XP_005277970.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 532,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005277913.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Ala467Thr",
"transcript": "XM_011531200.4",
"protein_id": "XP_011529502.2",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 532,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531200.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Ala467Thr",
"transcript": "XM_047442557.1",
"protein_id": "XP_047298513.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 532,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442557.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"transcript": "XM_047442558.1",
"protein_id": "XP_047298514.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 503,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442558.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"transcript": "XM_047442559.1",
"protein_id": "XP_047298515.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 503,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442559.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "XM_011531201.3",
"protein_id": "XP_011529503.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 477,
"cds_start": 1234,
"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": "XM_011531201.3"
}
],
"gene_symbol": "SLC10A3",
"gene_hgnc_id": 22979,
"dbsnp": "rs1434886424",
"frequency_reference_population": 0.000008875399,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000088754,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17082074284553528,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.0851,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.116,
"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": 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_019848.5",
"gene_symbol": "SLC10A3",
"hgnc_id": 22979,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr"
}
],
"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
}