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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: 7-37216688-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=37216688&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 37216688,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014800.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "NM_014800.11",
"protein_id": "NP_055615.8",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310758.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014800.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000310758.9",
"protein_id": "ENSP00000312185.4",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014800.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310758.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000448602.5",
"protein_id": "ENSP00000394458.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000448602.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "NM_001206480.2",
"protein_id": "NP_001193409.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "NM_001206480.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "NM_001206482.2",
"protein_id": "NP_001193411.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "NM_001206482.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000442504.5",
"protein_id": "ENSP00000406952.1",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000442504.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000898965.1",
"protein_id": "ENSP00000569024.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000898965.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000898966.1",
"protein_id": "ENSP00000569025.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000898966.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000898967.1",
"protein_id": "ENSP00000569026.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000898967.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000898968.1",
"protein_id": "ENSP00000569027.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000898968.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000898969.1",
"protein_id": "ENSP00000569028.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000898969.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000898970.1",
"protein_id": "ENSP00000569029.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000898970.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000963263.1",
"protein_id": "ENSP00000633322.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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": "ENST00000963263.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "ENST00000898964.1",
"protein_id": "ENSP00000569023.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 691,
"cds_start": 788,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898964.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"transcript": "ENST00000433246.5",
"protein_id": "ENSP00000413108.1",
"transcript_support_level": 4,
"aa_start": 42,
"aa_end": null,
"aa_length": 191,
"cds_start": 125,
"cds_end": null,
"cds_length": 578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433246.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000424212.1",
"protein_id": "ENSP00000395933.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 124,
"cds_start": 11,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424212.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "XM_005249919.4",
"protein_id": "XP_005249976.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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_005249919.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "XM_006715805.2",
"protein_id": "XP_006715868.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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_006715805.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "XM_011515654.3",
"protein_id": "XP_011513956.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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_011515654.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "XM_017012839.2",
"protein_id": "XP_016868328.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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_017012839.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "XM_024447008.2",
"protein_id": "XP_024302776.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"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_024447008.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMO1",
"gene_hgnc_id": 16286,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Ala263Val",
"transcript": "XM_047421086.1",
"protein_id": "XP_047277042.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 727,
"cds_start": 788,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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],
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},
{
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"strand": false,
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],
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"gene_symbol": "ELMO1",
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"hgvs_c": "n.128C>T",
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"transcript": "ENST00000487336.1",
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"biotype": "retained_intron",
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],
"gene_symbol": "ELMO1",
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"dbsnp": "rs753142024",
"frequency_reference_population": 0.000009913836,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.000008893,
"gnomad_genomes_af": 0.0000197262,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2614370584487915,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.7859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.066,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014800.11",
"gene_symbol": "ELMO1",
"hgnc_id": 16286,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.788C>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
}