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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: 2-30912341-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=30912341&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 30912341,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001253826.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1382T>A",
"hgvs_p": "p.Val461Glu",
"transcript": "NM_024572.4",
"protein_id": "NP_078848.2",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 552,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": "ENST00000349752.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024572.4"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1382T>A",
"hgvs_p": "p.Val461Glu",
"transcript": "ENST00000349752.10",
"protein_id": "ENSP00000288988.6",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 552,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": "NM_024572.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349752.10"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1397T>A",
"hgvs_p": "p.Val466Glu",
"transcript": "NM_001253826.2",
"protein_id": "NP_001240755.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 557,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253826.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1397T>A",
"hgvs_p": "p.Val466Glu",
"transcript": "ENST00000324589.9",
"protein_id": "ENSP00000314500.5",
"transcript_support_level": 2,
"aa_start": 466,
"aa_end": null,
"aa_length": 557,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324589.9"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1322T>A",
"hgvs_p": "p.Val441Glu",
"transcript": "NM_001253827.2",
"protein_id": "NP_001240756.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 532,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1802,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253827.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1322T>A",
"hgvs_p": "p.Val441Glu",
"transcript": "NM_001329096.2",
"protein_id": "NP_001316025.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 532,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329096.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1322T>A",
"hgvs_p": "p.Val441Glu",
"transcript": "ENST00000406653.5",
"protein_id": "ENSP00000385435.1",
"transcript_support_level": 2,
"aa_start": 441,
"aa_end": null,
"aa_length": 532,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406653.5"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1316T>A",
"hgvs_p": "p.Val439Glu",
"transcript": "ENST00000890113.1",
"protein_id": "ENSP00000560172.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890113.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1298T>A",
"hgvs_p": "p.Val433Glu",
"transcript": "ENST00000890111.1",
"protein_id": "ENSP00000560170.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 524,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890111.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1277T>A",
"hgvs_p": "p.Val426Glu",
"transcript": "NM_001329095.2",
"protein_id": "NP_001316024.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 517,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329095.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1193T>A",
"hgvs_p": "p.Val398Glu",
"transcript": "ENST00000890112.1",
"protein_id": "ENSP00000560171.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 489,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890112.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1153T>A",
"hgvs_p": "p.Tyr385Asn",
"transcript": "NM_001329097.2",
"protein_id": "NP_001316026.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 435,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329097.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Val328Glu",
"transcript": "ENST00000929072.1",
"protein_id": "ENSP00000599131.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 419,
"cds_start": 983,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929072.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.917T>A",
"hgvs_p": "p.Val306Glu",
"transcript": "ENST00000929073.1",
"protein_id": "ENSP00000599132.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 397,
"cds_start": 917,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929073.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1322T>A",
"hgvs_p": "p.Val441Glu",
"transcript": "XM_047445827.1",
"protein_id": "XP_047301783.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 532,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445827.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1048T>A",
"hgvs_p": "p.Tyr350Asn",
"transcript": "XM_017004907.2",
"protein_id": "XP_016860396.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 400,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004907.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.265T>A",
"hgvs_p": null,
"transcript": "ENST00000475320.5",
"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": 844,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475320.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.566T>A",
"hgvs_p": null,
"transcript": "ENST00000486564.5",
"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": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486564.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1386T>A",
"hgvs_p": null,
"transcript": "XR_001738941.2",
"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": 12636,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738941.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1386T>A",
"hgvs_p": null,
"transcript": "XR_001738942.2",
"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": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738942.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1157T>A",
"hgvs_p": null,
"transcript": "XR_001738943.2",
"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": 12407,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738943.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1736T>A",
"hgvs_p": null,
"transcript": "XR_007081587.1",
"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": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007081587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1736T>A",
"hgvs_p": null,
"transcript": "XR_007081588.1",
"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": 12986,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007081588.1"
}
],
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"dbsnp": null,
"frequency_reference_population": 6.842079e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84208e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10242119431495667,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.035999998450279236,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.1036,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.971,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000212539117634916,
"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_001253826.2",
"gene_symbol": "GALNT14",
"hgnc_id": 22946,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1397T>A",
"hgvs_p": "p.Val466Glu"
}
],
"clinvar_disease": "GALNT14-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "GALNT14-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}