← Back to variant description
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: 3-101340102-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=101340102&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 101340102,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020654.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Tyr784His",
"transcript": "NM_020654.5",
"protein_id": "NP_065705.3",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394095.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020654.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Tyr784His",
"transcript": "ENST00000394095.7",
"protein_id": "ENSP00000377655.2",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020654.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394095.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2251T>C",
"hgvs_p": "p.Tyr751His",
"transcript": "ENST00000348610.3",
"protein_id": "ENSP00000342159.3",
"transcript_support_level": 1,
"aa_start": 751,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2251,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348610.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2155T>C",
"hgvs_p": "p.Tyr719His",
"transcript": "ENST00000394094.6",
"protein_id": "ENSP00000377654.2",
"transcript_support_level": 1,
"aa_start": 719,
"aa_end": null,
"aa_length": 985,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394094.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2152T>C",
"hgvs_p": "p.Tyr718His",
"transcript": "ENST00000314261.11",
"protein_id": "ENSP00000313624.7",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 984,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314261.11"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1858T>C",
"hgvs_p": "p.Tyr620His",
"transcript": "ENST00000394091.5",
"protein_id": "ENSP00000377651.1",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 886,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394091.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2443T>C",
"hgvs_p": "p.Tyr815His",
"transcript": "ENST00000958689.1",
"protein_id": "ENSP00000628748.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2443,
"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": "ENST00000958689.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2353T>C",
"hgvs_p": "p.Tyr785His",
"transcript": "ENST00000958688.1",
"protein_id": "ENSP00000628747.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958688.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2251T>C",
"hgvs_p": "p.Tyr751His",
"transcript": "NM_001282802.2",
"protein_id": "NP_001269731.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2251,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282802.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2155T>C",
"hgvs_p": "p.Tyr719His",
"transcript": "NM_001077203.3",
"protein_id": "NP_001070671.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 985,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077203.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2152T>C",
"hgvs_p": "p.Tyr718His",
"transcript": "NM_001282801.2",
"protein_id": "NP_001269730.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 984,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282801.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1858T>C",
"hgvs_p": "p.Tyr620His",
"transcript": "NM_001282803.2",
"protein_id": "NP_001269732.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 886,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282803.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2353T>C",
"hgvs_p": "p.Tyr785His",
"transcript": "XM_011513038.4",
"protein_id": "XP_011511340.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513038.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2158T>C",
"hgvs_p": "p.Tyr720His",
"transcript": "XM_011513040.4",
"protein_id": "XP_011511342.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 986,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513040.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2155T>C",
"hgvs_p": "p.Tyr719His",
"transcript": "XM_011513041.4",
"protein_id": "XP_011511343.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 985,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513041.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2056T>C",
"hgvs_p": "p.Tyr686His",
"transcript": "XM_017006926.2",
"protein_id": "XP_016862415.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 952,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006926.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1960T>C",
"hgvs_p": "p.Tyr654His",
"transcript": "XM_011513042.4",
"protein_id": "XP_011511344.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 920,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513042.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1957T>C",
"hgvs_p": "p.Tyr653His",
"transcript": "XM_005247662.6",
"protein_id": "XP_005247719.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 919,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247662.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.1861T>C",
"hgvs_p": "p.Tyr621His",
"transcript": "XM_047448627.1",
"protein_id": "XP_047304583.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 887,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448627.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2353T>C",
"hgvs_p": "p.Tyr785His",
"transcript": "XM_017006928.3",
"protein_id": "XP_016862417.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 834,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006928.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2353T>C",
"hgvs_p": "p.Tyr785His",
"transcript": "XM_047448628.1",
"protein_id": "XP_047304584.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 834,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448628.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "n.324T>C",
"hgvs_p": null,
"transcript": "ENST00000460107.1",
"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,
"biotype": "retained_intron",
"feature": "ENST00000460107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "n.*7T>C",
"hgvs_p": null,
"transcript": "XR_007095713.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007095713.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "n.*7T>C",
"hgvs_p": null,
"transcript": "XR_007095714.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007095714.1"
}
],
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8590474128723145,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.751,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.401,
"phylop100way_prediction": "Pathogenic",
"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,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020654.5",
"gene_symbol": "SENP7",
"hgnc_id": 30402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Tyr784His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}