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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: 5-150535808-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150535808&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150535808,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001543.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "NM_001543.5",
"protein_id": "NP_001534.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261797.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001543.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000261797.7",
"protein_id": "ENSP00000261797.6",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001543.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261797.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891672.1",
"protein_id": "ENSP00000561731.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 895,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891672.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000965562.1",
"protein_id": "ENSP00000635621.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 895,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965562.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000965563.1",
"protein_id": "ENSP00000635622.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 891,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965563.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891667.1",
"protein_id": "ENSP00000561726.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891667.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891668.1",
"protein_id": "ENSP00000561727.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891668.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891669.1",
"protein_id": "ENSP00000561728.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891669.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891674.1",
"protein_id": "ENSP00000561733.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891674.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891675.1",
"protein_id": "ENSP00000561734.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891675.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891676.1",
"protein_id": "ENSP00000561735.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891676.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891677.1",
"protein_id": "ENSP00000561736.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891677.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000937575.1",
"protein_id": "ENSP00000607634.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937575.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000937577.1",
"protein_id": "ENSP00000607636.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937577.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000937578.1",
"protein_id": "ENSP00000607637.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937578.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000937579.1",
"protein_id": "ENSP00000607638.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937579.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000965561.1",
"protein_id": "ENSP00000635620.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 882,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965561.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000937576.1",
"protein_id": "ENSP00000607635.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 880,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937576.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000891673.1",
"protein_id": "ENSP00000561732.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 842,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891673.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000965559.1",
"protein_id": "ENSP00000635618.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 842,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965559.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "NM_001301063.2",
"protein_id": "NP_001287992.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 825,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301063.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDST1",
"gene_hgnc_id": 7680,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000523767.5",
"protein_id": "ENSP00000428604.1",
"transcript_support_level": 2,
"aa_start": 454,
"aa_end": null,
"aa_length": 825,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
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"cdna_length": null,
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{
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
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"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21115431189537048,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.393,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001543.5",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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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
}