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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: 6-10529803-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=10529803&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 10529803,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145649.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "NM_145649.5",
"protein_id": "NP_663624.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000495262.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145649.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000495262.7",
"protein_id": "ENSP00000419411.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145649.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495262.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000379597.7",
"protein_id": "ENSP00000368917.3",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379597.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.67+20645G>A",
"hgvs_p": null,
"transcript": "ENST00000410107.5",
"protein_id": "ENSP00000386321.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410107.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.1469G>A",
"hgvs_p": null,
"transcript": "ENST00000474983.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474983.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.484+962G>A",
"hgvs_p": null,
"transcript": "ENST00000397423.7",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000397423.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.283+36872G>A",
"hgvs_p": null,
"transcript": "ENST00000489225.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489225.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.175+8209G>A",
"hgvs_p": null,
"transcript": "ENST00000489819.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489819.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "NM_001374747.1",
"protein_id": "NP_001361676.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374747.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000910531.1",
"protein_id": "ENSP00000580590.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910531.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000942490.1",
"protein_id": "ENSP00000612549.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942490.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000942491.1",
"protein_id": "ENSP00000612550.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942491.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000942492.1",
"protein_id": "ENSP00000612551.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942492.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000910532.1",
"protein_id": "ENSP00000580591.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 371,
"cds_start": 892,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910532.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "XM_006715052.4",
"protein_id": "XP_006715115.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 402,
"cds_start": 892,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715052.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "XM_047418632.1",
"protein_id": "XP_047274588.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 349,
"cds_start": 892,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418632.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Glu221Lys",
"transcript": "XM_005248999.3",
"protein_id": "XP_005249056.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 325,
"cds_start": 661,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248999.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Glu221Lys",
"transcript": "XM_047418633.1",
"protein_id": "XP_047274589.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 325,
"cds_start": 661,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418633.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "XM_011514468.4",
"protein_id": "XP_011512770.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 318,
"cds_start": 892,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514468.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.7G>A",
"hgvs_p": null,
"transcript": "ENST00000485764.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.1427G>A",
"hgvs_p": null,
"transcript": "XR_002956275.2",
"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": "XR_002956275.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.1427G>A",
"hgvs_p": null,
"transcript": "XR_926136.3",
"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": "XR_926136.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.508+962G>A",
"hgvs_p": null,
"transcript": "ENST00000474518.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000474518.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.254+2143G>A",
"hgvs_p": null,
"transcript": "ENST00000475577.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000475577.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"hgvs_c": "n.-9G>A",
"hgvs_p": null,
"transcript": "ENST00000461400.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461400.1"
}
],
"gene_symbol": "GCNT2",
"gene_hgnc_id": 4204,
"dbsnp": "rs139794913",
"frequency_reference_population": 0.00047335518,
"hom_count_reference_population": 3,
"allele_count_reference_population": 764,
"gnomad_exomes_af": 0.000458357,
"gnomad_genomes_af": 0.000617341,
"gnomad_exomes_ac": 670,
"gnomad_genomes_ac": 94,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05079352855682373,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.612,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9221,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.653,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 13,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_145649.5",
"gene_symbol": "GCNT2",
"hgnc_id": 4204,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys"
}
],
"clinvar_disease": "GCNT2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "GCNT2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}