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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: 14-74286273-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74286273&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74286273,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "NM_005050.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "NM_005050.4",
"protein_id": "NP_005041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": null,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356924.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005050.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000356924.9",
"protein_id": "ENSP00000349396.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": null,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005050.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356924.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000885459.1",
"protein_id": "ENSP00000555518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000885453.1",
"protein_id": "ENSP00000555512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": null,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000948605.1",
"protein_id": "ENSP00000618664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000934333.1",
"protein_id": "ENSP00000604392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934333.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*401C>T",
"hgvs_p": null,
"transcript": "NM_020325.3",
"protein_id": "NP_064730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020325.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000885454.1",
"protein_id": "ENSP00000555513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000885457.1",
"protein_id": "ENSP00000555516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885457.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000948607.1",
"protein_id": "ENSP00000618666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
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"cds_length": 1770,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948607.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000885452.1",
"protein_id": "ENSP00000555511.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 584,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000885452.1"
},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ABCD4",
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"hgvs_c": "c.*188C>T",
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"transcript": "ENST00000934327.1",
"protein_id": "ENSP00000604386.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000934327.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ABCD4",
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"hgvs_c": "c.*517C>T",
"hgvs_p": null,
"transcript": "NM_001440752.1",
"protein_id": "NP_001427681.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"feature": "NM_001440752.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "ABCD4",
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"transcript": "ENST00000934326.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000934335.1",
"protein_id": "ENSP00000604394.1",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934335.1"
},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "ABCD4",
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"hgvs_c": "c.*188C>T",
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},
{
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],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "NM_001353591.2",
"protein_id": "NP_001340520.1",
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"mane_select": null,
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"feature": "NM_001353591.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000885451.1",
"protein_id": "ENSP00000555510.1",
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"feature": "ENST00000885451.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"intron_rank": null,
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"gene_symbol": "ABCD4",
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"hgvs_c": "c.*188C>T",
"hgvs_p": null,
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"intron_rank": null,
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"gene_symbol": "ABCD4",
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"hgvs_c": "c.*401C>T",
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"transcript": "NM_001353592.2",
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"biotype": "protein_coding",
"feature": "NM_001353592.2"
},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"intron_rank": null,
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"gene_symbol": "ABCD4",
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"transcript": "ENST00000934331.1",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934331.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000885460.1",
"protein_id": "ENSP00000555519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
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"cds_length": 1623,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885460.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
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"hgvs_p": null,
"transcript": "ENST00000555904.1",
"protein_id": "ENSP00000450982.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555904.1"
}
],
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"dbsnp": "rs8618",
"frequency_reference_population": 0.024204927,
"hom_count_reference_population": 1664,
"allele_count_reference_population": 14616,
"gnomad_exomes_af": 0.00878945,
"gnomad_genomes_af": 0.0699173,
"gnomad_exomes_ac": 3969,
"gnomad_genomes_ac": 10647,
"gnomad_exomes_homalt": 380,
"gnomad_genomes_homalt": 1284,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.191,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005050.4",
"gene_symbol": "ABCD4",
"hgnc_id": 68,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*188C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}