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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: 10-77926367-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=77926367&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 77926367,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_004747.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "NM_004747.4",
"protein_id": "NP_004738.3",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1919,
"cds_start": 154,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": "ENST00000372391.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004747.4"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "ENST00000372391.7",
"protein_id": "ENSP00000361467.2",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 1919,
"cds_start": 154,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": "NM_004747.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372391.7"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "ENST00000928380.1",
"protein_id": "ENSP00000598439.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1915,
"cds_start": 154,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 8029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928380.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "ENST00000928379.1",
"protein_id": "ENSP00000598438.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1888,
"cds_start": 154,
"cds_end": null,
"cds_length": 5667,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 8013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928379.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "ENST00000962015.1",
"protein_id": "ENSP00000632074.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1548,
"cds_start": 154,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962015.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "XM_005270276.5",
"protein_id": "XP_005270333.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1915,
"cds_start": 154,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 7632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270276.5"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "XM_011540346.3",
"protein_id": "XP_011538648.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1680,
"cds_start": 154,
"cds_end": null,
"cds_length": 5043,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540346.3"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "XM_006718056.4",
"protein_id": "XP_006718119.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1579,
"cds_start": 154,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 6624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718056.4"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "XM_047426002.1",
"protein_id": "XP_047281958.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1452,
"cds_start": 154,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426002.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "XM_006718057.4",
"protein_id": "XP_006718120.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1342,
"cds_start": 154,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718057.4"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*",
"transcript": "XM_047426003.1",
"protein_id": "XP_047281959.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1202,
"cds_start": 154,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426003.1"
},
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.-27+14303A>T",
"hgvs_p": null,
"transcript": "XM_047425998.1",
"protein_id": "XP_047281954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1809,
"cds_start": null,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425998.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.627+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842780.1",
"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": 888,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842780.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.461+223T>A",
"hgvs_p": null,
"transcript": "ENST00000842781.1",
"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": 698,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842781.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.260+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842782.1",
"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": 618,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842782.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.240+108T>A",
"hgvs_p": null,
"transcript": "ENST00000842783.1",
"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": 479,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842783.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.191+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842784.1",
"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": 764,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842784.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.168+108T>A",
"hgvs_p": null,
"transcript": "ENST00000842785.1",
"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": 833,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842785.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.186+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842786.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842786.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.186+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842787.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 418,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842787.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.133+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842788.1",
"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": 594,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842788.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.63+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842789.1",
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842789.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.51+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842790.1",
"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": 391,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842790.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5-AS1",
"gene_hgnc_id": 45109,
"hgvs_c": "n.33+90T>A",
"hgvs_p": null,
"transcript": "ENST00000842791.1",
"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": 711,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842791.1"
}
],
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"dbsnp": "rs1846693029",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5199999809265137,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.408,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_004747.4",
"gene_symbol": "DLG5",
"hgnc_id": 2904,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.154A>T",
"hgvs_p": "p.Lys52*"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000842780.1",
"gene_symbol": "DLG5-AS1",
"hgnc_id": 45109,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.627+90T>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}