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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: 21-38822104-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=38822104&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 38822104,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001256295.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "NM_005239.6",
"protein_id": "NP_005230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360938.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005239.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000360938.8",
"protein_id": "ENSP00000354194.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005239.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360938.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1614+400C>T",
"hgvs_p": null,
"transcript": "NM_001256295.2",
"protein_id": "NP_001243224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256295.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1299+400C>T",
"hgvs_p": null,
"transcript": "ENST00000667466.1",
"protein_id": "ENSP00000499540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": null,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1218+400C>T",
"hgvs_p": null,
"transcript": "ENST00000968691.1",
"protein_id": "ENSP00000638750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000360214.8",
"protein_id": "ENSP00000353344.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360214.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000653642.1",
"protein_id": "ENSP00000499315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000662305.1",
"protein_id": "ENSP00000499226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000662305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000666778.1",
"protein_id": "ENSP00000499775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000666778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000859949.1",
"protein_id": "ENSP00000530008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000859950.1",
"protein_id": "ENSP00000530009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859950.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000859953.1",
"protein_id": "ENSP00000530012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859953.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000859954.1",
"protein_id": "ENSP00000530013.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859954.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000938968.1",
"protein_id": "ENSP00000609027.1",
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"biotype": "protein_coding",
"feature": "ENST00000938968.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000938970.1",
"protein_id": "ENSP00000609029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938970.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000968689.1",
"protein_id": "ENSP00000638748.1",
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"biotype": "protein_coding",
"feature": "ENST00000968689.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "ENST00000968690.1",
"protein_id": "ENSP00000638749.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000968690.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1188+400C>T",
"hgvs_p": null,
"transcript": "ENST00000859952.1",
"protein_id": "ENSP00000530011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000859952.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1182+400C>T",
"hgvs_p": null,
"transcript": "ENST00000859951.1",
"protein_id": "ENSP00000530010.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.708+400C>T",
"hgvs_p": null,
"transcript": "ENST00000938969.1",
"protein_id": "ENSP00000609028.1",
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"biotype": "protein_coding",
"feature": "ENST00000938969.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
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"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "XM_005260935.2",
"protein_id": "XP_005260992.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 469,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260935.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.1194+400C>T",
"hgvs_p": null,
"transcript": "XM_017028290.2",
"protein_id": "XP_016883779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028290.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ETS2-AS1",
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{
"aa_ref": null,
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"exon_count": 3,
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"biotype": "pseudogene",
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],
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"gnomad_genomes_af": 0.215409,
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"gnomad_genomes_ac": 32740,
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"gnomad_genomes_homalt": 4319,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.886,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001256295.2",
"gene_symbol": "ETS2",
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"effects": [
"intron_variant"
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"inheritance_mode": "AD",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000663561.1",
"gene_symbol": "ETS2-AS1",
"hgnc_id": 56712,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.535-8679G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}