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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: 1-169851914-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169851914&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 169851914,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366769.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "NM_001320047.2",
"protein_id": "NP_001306976.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359326.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320047.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000359326.9",
"protein_id": "ENSP00000352276.4",
"transcript_support_level": 1,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001320047.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359326.9"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000286031.10",
"protein_id": "ENSP00000286031.6",
"transcript_support_level": 1,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286031.10"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.1373A>C",
"hgvs_p": "p.Glu458Ala",
"transcript": "ENST00000413811.3",
"protein_id": "ENSP00000389257.3",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 530,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413811.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.*1799T>G",
"hgvs_p": null,
"transcript": "NM_020423.7",
"protein_id": "NP_065156.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": null,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367771.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020423.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.*1799T>G",
"hgvs_p": null,
"transcript": "ENST00000367771.11",
"protein_id": "ENSP00000356745.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": null,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020423.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367771.11"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2516A>C",
"hgvs_p": "p.Glu839Ala",
"transcript": "NM_001366769.1",
"protein_id": "NP_001353698.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 911,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366769.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2516A>C",
"hgvs_p": "p.Glu839Ala",
"transcript": "NM_001366770.1",
"protein_id": "NP_001353699.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 884,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366770.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000909928.1",
"protein_id": "ENSP00000579987.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909928.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000909929.1",
"protein_id": "ENSP00000579988.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909929.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000909930.1",
"protein_id": "ENSP00000579989.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909930.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000909931.1",
"protein_id": "ENSP00000579990.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909931.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000909932.1",
"protein_id": "ENSP00000579991.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909932.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000909933.1",
"protein_id": "ENSP00000579992.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909933.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000909934.1",
"protein_id": "ENSP00000579993.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909934.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000937558.1",
"protein_id": "ENSP00000607617.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937558.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000937559.1",
"protein_id": "ENSP00000607618.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937559.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000937560.1",
"protein_id": "ENSP00000607619.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937560.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000937562.1",
"protein_id": "ENSP00000607621.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937562.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2342A>C",
"hgvs_p": "p.Glu781Ala",
"transcript": "ENST00000937563.1",
"protein_id": "ENSP00000607622.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 853,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937563.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2255A>C",
"hgvs_p": "p.Glu752Ala",
"transcript": "NM_001366768.1",
"protein_id": "NP_001353697.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 824,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366768.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.2054A>C",
"hgvs_p": "p.Glu685Ala",
"transcript": "ENST00000937561.1",
"protein_id": "ENSP00000607620.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 757,
"cds_start": 2054,
"cds_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "n.*2219A>C",
"hgvs_p": null,
"transcript": "ENST00000459772.5",
"protein_id": "ENSP00000490589.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000459772.5"
}
],
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"dbsnp": "rs149928320",
"frequency_reference_population": 0.0011635068,
"hom_count_reference_population": 19,
"allele_count_reference_population": 1878,
"gnomad_exomes_af": 0.00108706,
"gnomad_genomes_af": 0.00189702,
"gnomad_exomes_ac": 1589,
"gnomad_genomes_ac": 289,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003371894359588623,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.004,
"revel_prediction": "Benign",
"alphamissense_score": 0.0654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.137,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001366769.1",
"gene_symbol": "FIRRM",
"hgnc_id": 25565,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2516A>C",
"hgvs_p": "p.Glu839Ala"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_181093.4",
"gene_symbol": "SCYL3",
"hgnc_id": 19285,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1799T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}