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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: 20-49864739-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=49864739&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 49864739,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001260491.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Met",
"transcript": "NM_015266.3",
"protein_id": "NP_056081.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 581,
"cds_start": 853,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361573.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015266.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Met",
"transcript": "ENST00000361573.3",
"protein_id": "ENSP00000354966.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 581,
"cds_start": 853,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015266.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361573.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Met",
"transcript": "ENST00000851371.1",
"protein_id": "ENSP00000521430.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 614,
"cds_start": 952,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851371.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Met",
"transcript": "NM_001260491.2",
"protein_id": "NP_001247420.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 597,
"cds_start": 901,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260491.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Met",
"transcript": "ENST00000417961.5",
"protein_id": "ENSP00000416418.1",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 597,
"cds_start": 901,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417961.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Met",
"transcript": "ENST00000851370.1",
"protein_id": "ENSP00000521429.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 593,
"cds_start": 853,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851370.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Met",
"transcript": "ENST00000851372.1",
"protein_id": "ENSP00000521431.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 580,
"cds_start": 850,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851372.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Val257Met",
"transcript": "ENST00000851369.1",
"protein_id": "ENSP00000521428.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 553,
"cds_start": 769,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851369.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Met",
"transcript": "ENST00000851368.1",
"protein_id": "ENSP00000521427.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 552,
"cds_start": 853,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851368.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "XM_011528736.3",
"protein_id": "XP_011527038.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 630,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528736.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Met",
"transcript": "XM_006723756.2",
"protein_id": "XP_006723819.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 614,
"cds_start": 952,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723756.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Val306Met",
"transcript": "XM_011528737.2",
"protein_id": "XP_011527039.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 602,
"cds_start": 916,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528737.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "XM_011528738.3",
"protein_id": "XP_011527040.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 591,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528738.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "XM_047440069.1",
"protein_id": "XP_047296025.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 571,
"cds_start": 823,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440069.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "XM_017027754.3",
"protein_id": "XP_016883243.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 565,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027754.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "XM_011528740.3",
"protein_id": "XP_011527042.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 564,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528740.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Met",
"transcript": "XM_011528741.3",
"protein_id": "XP_011527043.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 558,
"cds_start": 901,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528741.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Val257Met",
"transcript": "XM_047440070.1",
"protein_id": "XP_047296026.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 553,
"cds_start": 769,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440070.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Met",
"transcript": "XM_047440071.1",
"protein_id": "XP_047296027.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 542,
"cds_start": 853,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440071.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Val99Met",
"transcript": "XM_047440072.1",
"protein_id": "XP_047296028.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 395,
"cds_start": 295,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440072.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "n.913G>A",
"hgvs_p": null,
"transcript": "NR_048537.2",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048537.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "n.829G>A",
"hgvs_p": null,
"transcript": "NR_048538.2",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048538.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "n.785G>A",
"hgvs_p": null,
"transcript": "NR_048539.2",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048539.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"hgvs_c": "n.811G>A",
"hgvs_p": null,
"transcript": "NR_048540.2",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048540.2"
}
],
"gene_symbol": "SLC9A8",
"gene_hgnc_id": 20728,
"dbsnp": "rs759363309",
"frequency_reference_population": 0.000060168248,
"hom_count_reference_population": 0,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000636987,
"gnomad_genomes_af": 0.0000262902,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22011429071426392,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5297437906265259,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_ADA",
"revel_score": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.1501,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.931,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.529743810024111,
"dbscsnv_ada_prediction": "Benign",
"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_001260491.2",
"gene_symbol": "SLC9A8",
"hgnc_id": 20728,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Met"
}
],
"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
}