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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: 8-17243133-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17243133&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17243133,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001322093.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "NM_013354.7",
"protein_id": "NP_037486.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": "ENST00000361272.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013354.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000361272.9",
"protein_id": "ENSP00000355279.4",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": "NM_013354.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361272.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "NM_001322093.2",
"protein_id": "NP_001309022.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 307,
"cds_start": 170,
"cds_end": null,
"cds_length": 924,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 6956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322093.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000851024.1",
"protein_id": "ENSP00000521093.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 307,
"cds_start": 170,
"cds_end": null,
"cds_length": 924,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 6956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851024.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "NM_001322090.2",
"protein_id": "NP_001309019.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 6965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322090.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "NM_001322091.2",
"protein_id": "NP_001309020.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 6780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322091.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "NM_001322092.2",
"protein_id": "NP_001309021.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 6855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322092.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000851025.1",
"protein_id": "ENSP00000521094.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851025.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000880739.1",
"protein_id": "ENSP00000550798.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880739.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000880740.1",
"protein_id": "ENSP00000550799.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880740.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000880741.1",
"protein_id": "ENSP00000550800.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880741.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000880742.1",
"protein_id": "ENSP00000550801.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880742.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000880743.1",
"protein_id": "ENSP00000550802.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880743.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000880745.1",
"protein_id": "ENSP00000550804.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880745.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000880747.1",
"protein_id": "ENSP00000550806.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880747.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000880748.1",
"protein_id": "ENSP00000550807.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880748.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000931011.1",
"protein_id": "ENSP00000601070.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931011.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000931012.1",
"protein_id": "ENSP00000601071.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931012.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000931013.1",
"protein_id": "ENSP00000601072.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931013.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000931014.1",
"protein_id": "ENSP00000601073.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931014.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000931015.1",
"protein_id": "ENSP00000601074.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931015.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000931016.1",
"protein_id": "ENSP00000601075.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 285,
"cds_start": 170,
"cds_end": null,
"cds_length": 858,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
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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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},
{
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"strand": true,
"consequences": [
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],
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"transcript": "ENST00000520178.3",
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],
"gene_symbol": "CNOT7",
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"dbsnp": "rs1810418480",
"frequency_reference_population": 0.0000093219005,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000960934,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12852680683135986,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.0773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.885,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001322093.2",
"gene_symbol": "CNOT7",
"hgnc_id": 14101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser"
}
],
"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
}