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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: 6-39912909-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=39912909&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 39912909,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000340692.10",
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"transcript": "NM_001358530.2",
"protein_id": "NP_001345459.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 636,
"cds_start": 853,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": "ENST00000340692.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"transcript": "ENST00000340692.10",
"protein_id": "ENSP00000344794.5",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 636,
"cds_start": 853,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": "NM_001358530.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"transcript": "ENST00000373188.6",
"protein_id": "ENSP00000362284.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.592G>A",
"hgvs_p": null,
"transcript": "ENST00000373181.8",
"protein_id": "ENSP00000362277.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"transcript": "NM_001358529.2",
"protein_id": "NP_001345458.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 620,
"cds_start": 853,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Glu227Lys",
"transcript": "ENST00000713661.1",
"protein_id": "ENSP00000518964.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 562,
"cds_start": 679,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "NM_001358531.2",
"protein_id": "NP_001345460.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 549,
"cds_start": 592,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000373195.7",
"protein_id": "ENSP00000362291.3",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 533,
"cds_start": 592,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"transcript": "NM_001075098.4",
"protein_id": "NP_001068566.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"transcript": "NM_005943.6",
"protein_id": "NP_005934.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"transcript": "ENST00000713665.1",
"protein_id": "ENSP00000518968.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 371,
"cds_start": 853,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "NM_001358533.2",
"protein_id": "NP_001345462.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 592,
"cds_end": null,
"cds_length": 897,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "NM_001358534.2",
"protein_id": "NP_001345463.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 592,
"cds_end": null,
"cds_length": 897,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000713662.1",
"protein_id": "ENSP00000518965.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 592,
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"cds_length": 897,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "XM_047418828.1",
"protein_id": "XP_047274784.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 549,
"cds_start": 592,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.862G>A",
"hgvs_p": null,
"transcript": "ENST00000425303.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.766G>A",
"hgvs_p": null,
"transcript": "ENST00000432280.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.*701G>A",
"hgvs_p": null,
"transcript": "ENST00000487924.2",
"protein_id": "ENSP00000418315.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.991G>A",
"hgvs_p": null,
"transcript": "ENST00000645522.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.*455G>A",
"hgvs_p": null,
"transcript": "ENST00000713663.1",
"protein_id": "ENSP00000518966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.*48G>A",
"hgvs_p": null,
"transcript": "ENST00000713664.1",
"protein_id": "ENSP00000518967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.771G>A",
"hgvs_p": null,
"transcript": "NR_033233.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.*701G>A",
"hgvs_p": null,
"transcript": "ENST00000487924.2",
"protein_id": "ENSP00000418315.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.*455G>A",
"hgvs_p": null,
"transcript": "ENST00000713663.1",
"protein_id": "ENSP00000518966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.*48G>A",
"hgvs_p": null,
"transcript": "ENST00000713664.1",
"protein_id": "ENSP00000518967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"dbsnp": "rs140243105",
"frequency_reference_population": 0.0009943363,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1605,
"gnomad_exomes_af": 0.00100763,
"gnomad_genomes_af": 0.000866756,
"gnomad_exomes_ac": 1473,
"gnomad_genomes_ac": 132,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01301392912864685,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.307,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0724,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.019,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000340692.10",
"gene_symbol": "MOCS1",
"hgnc_id": 7190,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys"
}
],
"clinvar_disease": "Inborn genetic diseases,Intellectual disability,MOCS1-related disorder,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1 B:1",
"phenotype_combined": "not provided|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A|Intellectual disability|not specified|Inborn genetic diseases|MOCS1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}