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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: 8-6499895-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=6499895&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 6499895,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024596.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "NM_024596.5",
"protein_id": "NP_078872.3",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 835,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "ENST00000344683.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "ENST00000344683.10",
"protein_id": "ENSP00000342924.5",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 835,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "NM_024596.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3206G>C",
"hgvs_p": null,
"transcript": "NM_001118887.2",
"protein_id": "NP_001112359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": "ENST00000629816.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3206G>C",
"hgvs_p": null,
"transcript": "ENST00000629816.3",
"protein_id": "ENSP00000486858.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": "NM_001118887.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3206G>C",
"hgvs_p": null,
"transcript": "ENST00000325203.9",
"protein_id": "ENSP00000314897.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "ENST00000692836.1",
"protein_id": "ENSP00000509971.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 890,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "NM_001322042.2",
"protein_id": "NP_001308971.2",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 875,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "ENST00000689348.1",
"protein_id": "ENSP00000509554.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 875,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "NM_001410917.1",
"protein_id": "NP_001397846.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 871,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "ENST00000692938.1",
"protein_id": "ENSP00000509072.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 871,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "NM_001363979.1",
"protein_id": "NP_001350908.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 830,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "ENST00000690826.1",
"protein_id": "ENSP00000510536.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 830,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "NM_001410916.1",
"protein_id": "NP_001397845.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 744,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "ENST00000691435.1",
"protein_id": "ENSP00000510652.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 744,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.1025C>G",
"hgvs_p": "p.Pro342Arg",
"transcript": "ENST00000690708.1",
"protein_id": "ENSP00000510400.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 450,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Pro275Arg",
"transcript": "ENST00000689736.1",
"protein_id": "ENSP00000509722.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 364,
"cds_start": 824,
"cds_end": null,
"cds_length": 1096,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Pro90Arg",
"transcript": "ENST00000687413.1",
"protein_id": "ENSP00000510583.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 179,
"cds_start": 269,
"cds_end": null,
"cds_length": 541,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "ENST00000521129.2",
"protein_id": "ENSP00000509664.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 165,
"cds_start": 227,
"cds_end": null,
"cds_length": 499,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "XM_017013829.3",
"protein_id": "XP_016869318.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 877,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "XM_047422233.1",
"protein_id": "XP_047278189.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 826,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg",
"transcript": "XM_011534756.4",
"protein_id": "XP_011533058.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 776,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.1979C>G",
"hgvs_p": "p.Pro660Arg",
"transcript": "XM_047422234.1",
"protein_id": "XP_047278190.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 768,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 7807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
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},
{
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"canonical": false,
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],
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},
{
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],
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}
],
"gene_symbol": "MCPH1",
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"dbsnp": "rs199861426",
"frequency_reference_population": 6.843194e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84319e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8302392959594727,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.32,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5752,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.287,
"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": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024596.5",
"gene_symbol": "MCPH1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2180C>G",
"hgvs_p": "p.Pro727Arg"
},
{
"score": 3,
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"pathogenic_score": 3,
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"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001118887.2",
"gene_symbol": "ANGPT2",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.*3206G>C",
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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
}