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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: 8-24321271-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=24321271&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 24321271,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014265.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "NM_014265.6",
"protein_id": "NP_055080.2",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 775,
"cds_start": 702,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265769.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014265.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "ENST00000265769.9",
"protein_id": "ENSP00000265769.4",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 775,
"cds_start": 702,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014265.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265769.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "ENST00000437154.6",
"protein_id": "ENSP00000393699.2",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 540,
"cds_start": 702,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437154.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "XM_047421273.1",
"protein_id": "XP_047277229.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 542,
"cds_start": 3,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421273.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "ENST00000699027.1",
"protein_id": "ENSP00000514095.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 796,
"cds_start": 702,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699027.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "ENST00000904759.1",
"protein_id": "ENSP00000574818.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 767,
"cds_start": 702,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904759.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "NM_001304351.2",
"protein_id": "NP_001291280.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 754,
"cds_start": 702,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304351.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "ENST00000950408.1",
"protein_id": "ENSP00000620467.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 746,
"cds_start": 702,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950408.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "ENST00000904758.1",
"protein_id": "ENSP00000574817.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 732,
"cds_start": 702,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904758.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Met144Ile",
"transcript": "ENST00000904760.1",
"protein_id": "ENSP00000574819.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 685,
"cds_start": 432,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904760.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "NM_021777.5",
"protein_id": "NP_068547.2",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 540,
"cds_start": 702,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021777.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_006716273.4",
"protein_id": "XP_006716336.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 767,
"cds_start": 702,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716273.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_011544367.4",
"protein_id": "XP_011542669.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 746,
"cds_start": 702,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544367.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_017012974.3",
"protein_id": "XP_016868463.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 741,
"cds_start": 702,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012974.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_005273380.5",
"protein_id": "XP_005273437.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 736,
"cds_start": 702,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273380.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_047421270.1",
"protein_id": "XP_047277226.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 736,
"cds_start": 702,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421270.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_017012975.3",
"protein_id": "XP_016868464.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 732,
"cds_start": 702,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012975.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_006716274.2",
"protein_id": "XP_006716337.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 728,
"cds_start": 702,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716274.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_011544368.4",
"protein_id": "XP_011542670.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 728,
"cds_start": 702,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544368.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_047421271.1",
"protein_id": "XP_047277227.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 727,
"cds_start": 702,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421271.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Met174Ile",
"transcript": "XM_047421272.1",
"protein_id": "XP_047277228.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 715,
"cds_start": 522,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421272.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "XM_011544369.3",
"protein_id": "XP_011542671.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 673,
"cds_start": 702,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544369.3"
},
{
"aa_ref": "M",
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{
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{
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{
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{
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],
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},
{
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],
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"gene_symbol": "ADAM28",
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"biotype": "pseudogene",
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],
"gene_symbol": "ADAM28",
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"dbsnp": "rs1386079376",
"frequency_reference_population": 0.000010580457,
"hom_count_reference_population": 2,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000893581,
"gnomad_genomes_af": 0.0000263303,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2609556019306183,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.41999998688697815,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.4986,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.585,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.42,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014265.6",
"gene_symbol": "ADAM28",
"hgnc_id": 206,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000518988.5",
"gene_symbol": "ADAM7-AS1",
"hgnc_id": 56152,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.356-20342C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}