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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: 11-31460629-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31460629&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31460629,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001304274.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "NM_001304274.2",
"protein_id": "NP_001291203.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 733,
"mane_select": "ENST00000532287.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "ENST00000532287.6",
"protein_id": "ENSP00000435576.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 733,
"mane_select": "NM_001304274.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.307A>G",
"hgvs_p": null,
"transcript": "ENST00000532624.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.46-4243A>G",
"hgvs_p": null,
"transcript": "ENST00000528161.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "NM_144981.3",
"protein_id": "NP_659418.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "ENST00000278200.5",
"protein_id": "ENSP00000278200.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "ENST00000529749.5",
"protein_id": "ENSP00000432001.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 106,
"cds_start": 191,
"cds_end": null,
"cds_length": 321,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "ENST00000530023.5",
"protein_id": "ENSP00000432792.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 95,
"cds_start": 191,
"cds_end": null,
"cds_length": 288,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_005252812.4",
"protein_id": "XP_005252869.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_011519942.2",
"protein_id": "XP_011518244.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_011519943.3",
"protein_id": "XP_011518245.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_011519945.3",
"protein_id": "XP_011518247.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_011519946.3",
"protein_id": "XP_011518248.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_011519947.3",
"protein_id": "XP_011518249.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_017017305.2",
"protein_id": "XP_016872794.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_047426520.1",
"protein_id": "XP_047282476.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg",
"transcript": "XM_047426521.1",
"protein_id": "XP_047282477.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 191,
"cds_end": null,
"cds_length": 501,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.294A>G",
"hgvs_p": null,
"transcript": "ENST00000527184.5",
"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": 486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.191A>G",
"hgvs_p": null,
"transcript": "ENST00000648582.1",
"protein_id": "ENSP00000497019.1",
"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": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.324A>G",
"hgvs_p": null,
"transcript": "XR_242781.4",
"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": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.105+2543A>G",
"hgvs_p": null,
"transcript": "ENST00000526776.5",
"protein_id": "ENSP00000434280.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.-6-27059A>G",
"hgvs_p": null,
"transcript": "ENST00000533642.1",
"protein_id": "ENSP00000432471.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": -4,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.-7+16872A>G",
"hgvs_p": null,
"transcript": "ENST00000534812.5",
"protein_id": "ENSP00000432673.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": -4,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.363+2543A>G",
"hgvs_p": null,
"transcript": "ENST00000531693.1",
"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": 437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.87-4243A>G",
"hgvs_p": null,
"transcript": "XM_017017306.2",
"protein_id": "XP_016872795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"dbsnp": "rs751011374",
"frequency_reference_population": 0.0000050354242,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000487279,
"gnomad_genomes_af": 0.00000657047,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22632229328155518,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.0748,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.008,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001304274.2",
"gene_symbol": "IMMP1L",
"hgnc_id": 26317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Gln64Arg"
}
],
"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
}