← Back to variant description
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: 22-50625639-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50625639&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50625639,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000487.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys",
"transcript": "NM_000487.6",
"protein_id": "NP_000478.3",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 509,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216124.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000487.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys",
"transcript": "ENST00000216124.10",
"protein_id": "ENSP00000216124.5",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 509,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000487.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216124.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys",
"transcript": "ENST00000356098.9",
"protein_id": "ENSP00000348406.5",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 509,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356098.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys",
"transcript": "NM_001085425.3",
"protein_id": "NP_001078894.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 509,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085425.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys",
"transcript": "NM_001085426.3",
"protein_id": "NP_001078895.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 509,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085426.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys",
"transcript": "NM_001085427.3",
"protein_id": "NP_001078896.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 509,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085427.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys",
"transcript": "ENST00000395619.3",
"protein_id": "ENSP00000378981.3",
"transcript_support_level": 5,
"aa_start": 384,
"aa_end": null,
"aa_length": 509,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395619.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys",
"transcript": "ENST00000395621.7",
"protein_id": "ENSP00000378983.3",
"transcript_support_level": 2,
"aa_start": 384,
"aa_end": null,
"aa_length": 509,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395621.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"transcript": "ENST00000861937.1",
"protein_id": "ENSP00000531996.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 505,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861937.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Glu378Lys",
"transcript": "ENST00000861939.1",
"protein_id": "ENSP00000531998.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 503,
"cds_start": 1132,
"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": "ENST00000861939.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Glu374Lys",
"transcript": "ENST00000861943.1",
"protein_id": "ENSP00000532002.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861943.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382Gln",
"transcript": "ENST00000861942.1",
"protein_id": "ENSP00000532001.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 491,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861942.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Glu363Lys",
"transcript": "ENST00000861936.1",
"protein_id": "ENSP00000531995.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 488,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861936.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Glu357Lys",
"transcript": "ENST00000963449.1",
"protein_id": "ENSP00000633508.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 482,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963449.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Glu311Lys",
"transcript": "ENST00000861938.1",
"protein_id": "ENSP00000531997.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 436,
"cds_start": 931,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861938.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Glu305Lys",
"transcript": "ENST00000861940.1",
"protein_id": "ENSP00000531999.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 430,
"cds_start": 913,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861940.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "NM_001085428.3",
"protein_id": "NP_001078897.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 423,
"cds_start": 892,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085428.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "NM_001362782.2",
"protein_id": "NP_001349711.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 423,
"cds_start": 892,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362782.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000453344.6",
"protein_id": "ENSP00000412542.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 423,
"cds_start": 892,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453344.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000861941.1",
"protein_id": "ENSP00000532000.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 299,
"cds_start": 520,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1108-175G>A",
"hgvs_p": null,
"transcript": "XM_011530691.4",
"protein_id": "XP_011528993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": null,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530691.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1108-175G>A",
"hgvs_p": null,
"transcript": "XM_024452241.2",
"protein_id": "XP_024308009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": null,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452241.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.1108-175G>A",
"hgvs_p": null,
"transcript": "XM_047441363.1",
"protein_id": "XP_047297319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": null,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441363.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "n.16G>A",
"hgvs_p": null,
"transcript": "ENST00000608497.1",
"protein_id": "ENSP00000477013.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000608497.1"
}
],
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"dbsnp": "rs74315479",
"frequency_reference_population": 0.000011154006,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000102634,
"gnomad_genomes_af": 0.0000197029,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8065654039382935,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.523,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0864,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.129,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000487.6",
"gene_symbol": "ARSA",
"hgnc_id": 713,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Glu384Lys"
}
],
"clinvar_disease": " INTERMEDIATE,ARYLSULFATASE A PSEUDODEFICIENCY,Metachromatic leukodystrophy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE|Metachromatic leukodystrophy|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}