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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: X-31147457-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=31147457&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 31147457,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000357033.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10615C>T",
"hgvs_p": "p.Leu3539Leu",
"transcript": "NM_004006.3",
"protein_id": "NP_003997.2",
"transcript_support_level": null,
"aa_start": 3539,
"aa_end": null,
"aa_length": 3685,
"cds_start": 10615,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 10852,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "ENST00000357033.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10615C>T",
"hgvs_p": "p.Leu3539Leu",
"transcript": "ENST00000357033.9",
"protein_id": "ENSP00000354923.3",
"transcript_support_level": 1,
"aa_start": 3539,
"aa_end": null,
"aa_length": 3685,
"cds_start": 10615,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 10852,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "NM_004006.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Leu471Leu",
"transcript": "ENST00000378723.7",
"protein_id": "ENSP00000367997.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 635,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Leu458Leu",
"transcript": "ENST00000361471.8",
"protein_id": "ENSP00000354464.4",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 622,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Leu471Leu",
"transcript": "ENST00000378702.8",
"protein_id": "ENSP00000367974.4",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 617,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Leu361Leu",
"transcript": "ENST00000378680.6",
"protein_id": "ENSP00000367951.2",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 525,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10603C>T",
"hgvs_p": "p.Leu3535Leu",
"transcript": "NM_004009.3",
"protein_id": "NP_004000.1",
"transcript_support_level": null,
"aa_start": 3535,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10603,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 10866,
"cdna_end": null,
"cdna_length": 14000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10603C>T",
"hgvs_p": "p.Leu3535Leu",
"transcript": "ENST00000378677.6",
"protein_id": "ENSP00000367948.2",
"transcript_support_level": 5,
"aa_start": 3535,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10603,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 10798,
"cdna_end": null,
"cdna_length": 13932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10591C>T",
"hgvs_p": "p.Leu3531Leu",
"transcript": "NM_000109.4",
"protein_id": "NP_000100.3",
"transcript_support_level": null,
"aa_start": 3531,
"aa_end": null,
"aa_length": 3677,
"cds_start": 10591,
"cds_end": null,
"cds_length": 11034,
"cdna_start": 10714,
"cdna_end": null,
"cdna_length": 13854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10246C>T",
"hgvs_p": "p.Leu3416Leu",
"transcript": "NM_004010.3",
"protein_id": "NP_004001.1",
"transcript_support_level": null,
"aa_start": 3416,
"aa_end": null,
"aa_length": 3562,
"cds_start": 10246,
"cds_end": null,
"cds_length": 10689,
"cdna_start": 10949,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6592C>T",
"hgvs_p": "p.Leu2198Leu",
"transcript": "NM_004011.4",
"protein_id": "NP_004002.3",
"transcript_support_level": null,
"aa_start": 2198,
"aa_end": null,
"aa_length": 2344,
"cds_start": 6592,
"cds_end": null,
"cds_length": 7035,
"cdna_start": 6611,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6583C>T",
"hgvs_p": "p.Leu2195Leu",
"transcript": "NM_004012.4",
"protein_id": "NP_004003.2",
"transcript_support_level": null,
"aa_start": 2195,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6583,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6754,
"cdna_end": null,
"cdna_length": 9894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6583C>T",
"hgvs_p": "p.Leu2195Leu",
"transcript": "ENST00000619831.5",
"protein_id": "ENSP00000479270.2",
"transcript_support_level": 5,
"aa_start": 2195,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6583,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6763,
"cdna_end": null,
"cdna_length": 9903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.5422C>T",
"hgvs_p": "p.Leu1808Leu",
"transcript": "ENST00000358062.7",
"protein_id": "ENSP00000350765.3",
"transcript_support_level": 5,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 5422,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3235C>T",
"hgvs_p": "p.Leu1079Leu",
"transcript": "NM_004021.3",
"protein_id": "NP_004012.2",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4276,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3235C>T",
"hgvs_p": "p.Leu1079Leu",
"transcript": "ENST00000474231.5",
"protein_id": "ENSP00000417123.1",
"transcript_support_level": 5,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4276,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3196C>T",
"hgvs_p": "p.Leu1066Leu",
"transcript": "NM_004022.3",
"protein_id": "NP_004013.2",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3196C>T",
"hgvs_p": "p.Leu1066Leu",
"transcript": "ENST00000359836.5",
"protein_id": "ENSP00000352894.1",
"transcript_support_level": 5,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 7339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3235C>T",
"hgvs_p": "p.Leu1079Leu",
"transcript": "NM_004013.3",
"protein_id": "NP_004004.2",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4276,
"cdna_end": null,
"cdna_length": 7416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3235C>T",
"hgvs_p": "p.Leu1079Leu",
"transcript": "ENST00000378707.7",
"protein_id": "ENSP00000367979.3",
"transcript_support_level": 5,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4276,
"cdna_end": null,
"cdna_length": 7410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3196C>T",
"hgvs_p": "p.Leu1066Leu",
"transcript": "ENST00000684130.1",
"protein_id": "ENSP00000508037.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 7361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3196C>T",
"hgvs_p": "p.Leu1066Leu",
"transcript": "ENST00000620040.5",
"protein_id": "ENSP00000478150.2",
"transcript_support_level": 5,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 6941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000297249",
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"hgvs_c": "n.228-21464G>A",
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"transcript": "ENST00000746482.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 635,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"dbsnp": "rs367748290",
"frequency_reference_population": 0.0000018300439,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000183004,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.6,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.11,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357033.9",
"gene_symbol": "DMD",
"hgnc_id": 2928,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.10615C>T",
"hgvs_p": "p.Leu3539Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000746482.1",
"gene_symbol": "ENSG00000297249",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.228-21464G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}