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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: 7-154794095-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=154794095&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 154794095,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000377770.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "NM_130797.4",
"protein_id": "NP_570629.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 865,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "ENST00000377770.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "ENST00000377770.8",
"protein_id": "ENSP00000367001.3",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 865,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "NM_130797.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000332007.7",
"protein_id": "ENSP00000328226.3",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 803,
"cds_start": 967,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
"transcript": "ENST00000404039.5",
"protein_id": "ENSP00000385578.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 801,
"cds_start": 961,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Met324Val",
"transcript": "NM_001364497.2",
"protein_id": "NP_001351426.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 804,
"cds_start": 970,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Met324Val",
"transcript": "NM_001364498.2",
"protein_id": "NP_001351427.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 804,
"cds_start": 970,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Met324Val",
"transcript": "NM_001364499.2",
"protein_id": "NP_001351428.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 804,
"cds_start": 970,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Met324Val",
"transcript": "NM_001364500.2",
"protein_id": "NP_001351429.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 804,
"cds_start": 970,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 4698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Met324Val",
"transcript": "ENST00000706130.1",
"protein_id": "ENSP00000516215.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 804,
"cds_start": 970,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "NM_001936.5",
"protein_id": "NP_001927.3",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 803,
"cds_start": 967,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
"transcript": "NM_001039350.3",
"protein_id": "NP_001034439.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 801,
"cds_start": 961,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val",
"transcript": "NM_001290252.2",
"protein_id": "NP_001277181.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 758,
"cds_start": 832,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val",
"transcript": "ENST00000427557.1",
"protein_id": "ENSP00000397303.1",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 758,
"cds_start": 832,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Met60Val",
"transcript": "ENST00000706151.1",
"protein_id": "ENSP00000516234.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 540,
"cds_start": 178,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
"transcript": "NM_001364501.2",
"protein_id": "NP_001351430.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 442,
"cds_start": 961,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Met324Val",
"transcript": "XM_047419951.1",
"protein_id": "XP_047275907.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 804,
"cds_start": 970,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Met177Val",
"transcript": "XM_017011812.3",
"protein_id": "XP_016867301.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 657,
"cds_start": 529,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.299A>G",
"hgvs_p": null,
"transcript": "ENST00000471100.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.371A>G",
"hgvs_p": null,
"transcript": "ENST00000478614.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.172A>G",
"hgvs_p": null,
"transcript": "ENST00000481593.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.799A>G",
"hgvs_p": null,
"transcript": "ENST00000706153.1",
"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": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.437A>G",
"hgvs_p": null,
"transcript": "ENST00000706154.1",
"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": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.584A>G",
"hgvs_p": null,
"transcript": "ENST00000706155.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "DPP6",
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}
],
"gene_symbol": "DPP6",
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"dbsnp": "rs786205143",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"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": 0.5567084550857544,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.373,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1663,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.031,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000377770.8",
"gene_symbol": "DPP6",
"hgnc_id": 3010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}