← Back to variant description
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: 5-38884012-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=38884012&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 38884012,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001323506.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "NM_003999.3",
"protein_id": "NP_003990.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 979,
"cds_start": 604,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274276.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003999.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "ENST00000274276.8",
"protein_id": "ENSP00000274276.3",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 979,
"cds_start": 604,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003999.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274276.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "ENST00000502536.5",
"protein_id": "ENSP00000422023.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 342,
"cds_start": 604,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502536.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "NM_001323506.2",
"protein_id": "NP_001310435.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 980,
"cds_start": 604,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323506.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "ENST00000880314.1",
"protein_id": "ENSP00000550373.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 980,
"cds_start": 604,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880314.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "ENST00000880315.1",
"protein_id": "ENSP00000550374.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 980,
"cds_start": 604,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880315.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "NM_001323505.2",
"protein_id": "NP_001310434.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 979,
"cds_start": 604,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323505.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "ENST00000880313.1",
"protein_id": "ENSP00000550372.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 979,
"cds_start": 604,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880313.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "ENST00000959611.1",
"protein_id": "ENSP00000629670.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 978,
"cds_start": 604,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959611.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "NM_001323507.2",
"protein_id": "NP_001310436.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 581,
"cds_start": 604,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323507.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "NM_001168355.3",
"protein_id": "NP_001161827.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 342,
"cds_start": 604,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168355.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "NM_001323504.2",
"protein_id": "NP_001310433.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 342,
"cds_start": 604,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323504.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_005248384.1",
"protein_id": "XP_005248441.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 980,
"cds_start": 604,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248384.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_047417870.1",
"protein_id": "XP_047273826.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 980,
"cds_start": 604,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417870.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_047417871.1",
"protein_id": "XP_047273827.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 979,
"cds_start": 604,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417871.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_011514161.3",
"protein_id": "XP_011512463.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 800,
"cds_start": 604,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514161.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_017010019.2",
"protein_id": "XP_016865508.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 799,
"cds_start": 604,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010019.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_047417872.1",
"protein_id": "XP_047273828.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 799,
"cds_start": 604,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417872.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_005248386.3",
"protein_id": "XP_005248443.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 582,
"cds_start": 604,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248386.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_047417873.1",
"protein_id": "XP_047273829.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 582,
"cds_start": 604,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417873.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg",
"transcript": "XM_005248387.3",
"protein_id": "XP_005248444.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 581,
"cds_start": 604,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248387.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "n.993A>C",
"hgvs_p": null,
"transcript": "XR_007058659.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "n.732A>C",
"hgvs_p": null,
"transcript": "XR_007058660.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "n.993A>C",
"hgvs_p": null,
"transcript": "XR_925661.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_925661.1"
}
],
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"dbsnp": "rs114792297",
"frequency_reference_population": 6.8450487e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84505e-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": 0.5068013668060303,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.1371,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.234,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001323506.2",
"gene_symbol": "OSMR",
"hgnc_id": 8507,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.604A>C",
"hgvs_p": "p.Ser202Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}