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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: 1-225080644-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225080644&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225080644,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000682510.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "NM_001367479.1",
"protein_id": "NP_001354408.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4617,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13854,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "ENST00000682510.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "ENST00000682510.1",
"protein_id": "ENSP00000508305.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4617,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13854,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "NM_001367479.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "ENST00000430092.5",
"protein_id": "ENSP00000414402.1",
"transcript_support_level": 5,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4515,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 13763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "ENST00000439375.6",
"protein_id": "ENSP00000392061.2",
"transcript_support_level": 5,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4515,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 3032,
"cdna_end": null,
"cdna_length": 13548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.2834G>A",
"hgvs_p": "p.Arg945Gln",
"transcript": "ENST00000445597.6",
"protein_id": "ENSP00000409472.2",
"transcript_support_level": 5,
"aa_start": 945,
"aa_end": null,
"aa_length": 3507,
"cds_start": 2834,
"cds_end": null,
"cds_length": 10524,
"cdna_start": 2834,
"cdna_end": null,
"cdna_length": 10524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544058.3",
"protein_id": "XP_011542360.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4616,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13851,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544059.3",
"protein_id": "XP_011542361.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4601,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13806,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 14038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_017000295.2",
"protein_id": "XP_016855784.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4592,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13779,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 14011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_006711735.4",
"protein_id": "XP_006711798.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4586,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13761,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 13993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_017000296.2",
"protein_id": "XP_016855785.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4584,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13755,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 13987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544061.3",
"protein_id": "XP_011542363.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4582,
"cds_start": 3032,
"cds_end": null,
"cds_length": 13749,
"cdna_start": 3247,
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"cdna_length": 13981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_017000297.2",
"protein_id": "XP_016855786.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4578,
"cds_start": 3032,
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"cds_length": 13737,
"cdna_start": 3247,
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"cdna_length": 13969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544062.3",
"protein_id": "XP_011542364.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4565,
"cds_start": 3032,
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"cdna_start": 3247,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544063.3",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544064.3",
"protein_id": "XP_011542366.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4561,
"cds_start": 3032,
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"cdna_start": 3247,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
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"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544065.3",
"protein_id": "XP_011542367.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544066.3",
"protein_id": "XP_011542368.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4545,
"cds_start": 3032,
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"cdna_start": 3247,
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"cdna_length": 13870,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544067.3",
"protein_id": "XP_011542369.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 4541,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_047445624.1",
"protein_id": "XP_047301580.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln",
"transcript": "XM_011544069.3",
"protein_id": "XP_011542371.1",
"transcript_support_level": null,
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"cds_start": 3032,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.2654G>A",
"hgvs_p": "p.Arg885Gln",
"transcript": "XM_011544070.3",
"protein_id": "XP_011542372.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 4491,
"cds_start": 2654,
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"cdna_start": 2869,
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"cdna_length": 13708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Arg835Gln",
"transcript": "XM_011544071.3",
"protein_id": "XP_011542373.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 4441,
"cds_start": 2504,
"cds_end": null,
"cds_length": 13326,
"cdna_start": 2719,
"cdna_end": null,
"cdna_length": 13558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
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},
{
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},
{
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},
{
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},
{
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],
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"gene_symbol": "DNAH14",
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"protein_id": "XP_011542378.1",
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"feature": null
}
],
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"dbsnp": "rs3128652",
"frequency_reference_population": 0.917722,
"hom_count_reference_population": 663935,
"allele_count_reference_population": 1423730,
"gnomad_exomes_af": 0.930802,
"gnomad_genomes_af": 0.797186,
"gnomad_exomes_ac": 1302663,
"gnomad_genomes_ac": 121067,
"gnomad_exomes_homalt": 612314,
"gnomad_genomes_homalt": 51621,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000002855727871065028,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
"alphamissense_score": 0.0745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.592,
"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": "ENST00000682510.1",
"gene_symbol": "DNAH14",
"hgnc_id": 2945,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011Gln"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}