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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: 11-45650274-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45650274&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45650274,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003654.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "NM_003654.6",
"protein_id": "NP_003645.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308064.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003654.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000308064.7",
"protein_id": "ENSP00000309270.2",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003654.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308064.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891796.1",
"protein_id": "ENSP00000561855.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891796.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891797.1",
"protein_id": "ENSP00000561856.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891797.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891798.1",
"protein_id": "ENSP00000561857.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891798.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891799.1",
"protein_id": "ENSP00000561858.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891799.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891800.1",
"protein_id": "ENSP00000561859.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891800.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891801.1",
"protein_id": "ENSP00000561860.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891801.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891802.1",
"protein_id": "ENSP00000561861.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891802.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891803.1",
"protein_id": "ENSP00000561862.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891803.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891804.1",
"protein_id": "ENSP00000561863.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891804.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891805.1",
"protein_id": "ENSP00000561864.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891805.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891806.1",
"protein_id": "ENSP00000561865.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891806.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891807.1",
"protein_id": "ENSP00000561866.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891807.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891808.1",
"protein_id": "ENSP00000561867.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891808.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891809.1",
"protein_id": "ENSP00000561868.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891809.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891810.1",
"protein_id": "ENSP00000561869.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891810.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891811.1",
"protein_id": "ENSP00000561870.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891811.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891812.1",
"protein_id": "ENSP00000561871.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891812.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000891813.1",
"protein_id": "ENSP00000561872.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891813.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000924349.1",
"protein_id": "ENSP00000594408.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924349.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000924350.1",
"protein_id": "ENSP00000594409.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 650,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924350.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
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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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"feature": "XM_017018459.3"
},
{
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],
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"gene_symbol": "CHST1",
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"transcript": "XM_047427781.1",
"protein_id": "XP_047283737.1",
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"feature": "XM_047427781.1"
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],
"gene_symbol": "CHST1",
"gene_hgnc_id": 1969,
"dbsnp": null,
"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": 0.7774233222007751,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.664,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1751,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.126,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003654.6",
"gene_symbol": "CHST1",
"hgnc_id": 1969,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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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
}