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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: 12-51453684-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51453684&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51453684,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001039960.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "NM_001039960.3",
"protein_id": "NP_001035049.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1093,
"cds_start": 559,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000453097.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039960.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "ENST00000453097.7",
"protein_id": "ENSP00000405812.2",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 1093,
"cds_start": 559,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039960.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453097.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.400A>C",
"hgvs_p": "p.Ile134Leu",
"transcript": "ENST00000358657.7",
"protein_id": "ENSP00000351483.4",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 1040,
"cds_start": 400,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358657.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.400A>C",
"hgvs_p": "p.Ile134Leu",
"transcript": "ENST00000514353.7",
"protein_id": "ENSP00000442561.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 747,
"cds_start": 400,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514353.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "ENST00000877857.1",
"protein_id": "ENSP00000547916.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1111,
"cds_start": 559,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877857.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001405270.1",
"protein_id": "NP_001392199.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1081,
"cds_start": 523,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405270.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.400A>C",
"hgvs_p": "p.Ile134Leu",
"transcript": "NM_001258401.3",
"protein_id": "NP_001245330.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 1040,
"cds_start": 400,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258401.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "ENST00000922421.1",
"protein_id": "ENSP00000592480.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1009,
"cds_start": 559,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922421.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "NM_001405268.1",
"protein_id": "NP_001392197.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 955,
"cds_start": 559,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405268.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.400A>C",
"hgvs_p": "p.Ile134Leu",
"transcript": "NM_001258403.2",
"protein_id": "NP_001245332.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 747,
"cds_start": 400,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258403.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.400A>C",
"hgvs_p": "p.Ile134Leu",
"transcript": "NM_001405266.1",
"protein_id": "NP_001392195.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 747,
"cds_start": 400,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405266.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "NM_001258402.2",
"protein_id": "NP_001245331.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 691,
"cds_start": 559,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258402.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.400A>C",
"hgvs_p": "p.Ile134Leu",
"transcript": "NM_001267615.2",
"protein_id": "NP_001254544.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 638,
"cds_start": 400,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267615.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.400A>C",
"hgvs_p": "p.Ile134Leu",
"transcript": "ENST00000535225.6",
"protein_id": "ENSP00000441520.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 638,
"cds_start": 400,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535225.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "XM_011539010.2",
"protein_id": "XP_011537312.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1111,
"cds_start": 559,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539010.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.400A>C",
"hgvs_p": "p.Ile134Leu",
"transcript": "XM_011539011.2",
"protein_id": "XP_011537313.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 1058,
"cds_start": 400,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539011.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "XM_047429911.1",
"protein_id": "XP_047285867.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1044,
"cds_start": 559,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429911.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu",
"transcript": "XM_006719700.2",
"protein_id": "XP_006719763.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 800,
"cds_start": 559,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719700.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "n.574A>C",
"hgvs_p": null,
"transcript": "ENST00000319957.10",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000319957.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "n.1237A>C",
"hgvs_p": null,
"transcript": "ENST00000547697.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547697.6"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "n.745A>C",
"hgvs_p": null,
"transcript": "ENST00000551071.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551071.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "n.477A>C",
"hgvs_p": null,
"transcript": "ENST00000552001.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
"aa_ref": null,
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"canonical": false,
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "SLC4A8",
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"transcript": "ENST00000604314.5",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000604314.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"hgvs_c": "n.*98A>C",
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"transcript": "ENST00000548352.5",
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"transcript_support_level": 5,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000548352.5"
}
],
"gene_symbol": "SLC4A8",
"gene_hgnc_id": 11034,
"dbsnp": "rs777593474",
"frequency_reference_population": 6.846258e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84626e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05493095517158508,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.0848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.631,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001039960.3",
"gene_symbol": "SLC4A8",
"hgnc_id": 11034,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ile187Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}