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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: 17-44320006-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44320006&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44320006,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000377095.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Ser",
"transcript": "NM_001143780.3",
"protein_id": "NP_001137252.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 359,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": "ENST00000377095.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Ser",
"transcript": "ENST00000377095.10",
"protein_id": "ENSP00000366299.4",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 359,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": "NM_001143780.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Gly351Ser",
"transcript": "ENST00000225308.12",
"protein_id": "ENSP00000225308.8",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 351,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Gly357Ser",
"transcript": "NM_001321241.2",
"protein_id": "NP_001308170.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 357,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Gly351Ser",
"transcript": "NM_016016.4",
"protein_id": "NP_057100.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 351,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Gly351Ser",
"transcript": "ENST00000590194.5",
"protein_id": "ENSP00000467681.1",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 351,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Gly336Ser",
"transcript": "NM_001321240.2",
"protein_id": "NP_001308169.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 336,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Gly336Ser",
"transcript": "ENST00000537904.6",
"protein_id": "ENSP00000444540.1",
"transcript_support_level": 2,
"aa_start": 336,
"aa_end": null,
"aa_length": 336,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Gly266Ser",
"transcript": "ENST00000588767.5",
"protein_id": "ENSP00000466615.1",
"transcript_support_level": 5,
"aa_start": 266,
"aa_end": null,
"aa_length": 266,
"cds_start": 796,
"cds_end": null,
"cds_length": 801,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Gly258Ser",
"transcript": "NM_001366726.1",
"protein_id": "NP_001353655.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 258,
"cds_start": 772,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Gly227Ser",
"transcript": "ENST00000586016.5",
"protein_id": "ENSP00000466676.1",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 227,
"cds_start": 679,
"cds_end": null,
"cds_length": 684,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Gly365Ser",
"transcript": "XM_011524880.4",
"protein_id": "XP_011523182.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 365,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Gly365Ser",
"transcript": "XM_047436234.1",
"protein_id": "XP_047292190.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 365,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Gly357Ser",
"transcript": "XM_047436235.1",
"protein_id": "XP_047292191.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 357,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Gly342Ser",
"transcript": "XM_047436236.1",
"protein_id": "XP_047292192.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 342,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Gly336Ser",
"transcript": "XM_047436237.1",
"protein_id": "XP_047292193.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 336,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Gly264Ser",
"transcript": "XM_047436238.1",
"protein_id": "XP_047292194.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 264,
"cds_start": 790,
"cds_end": null,
"cds_length": 795,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Gly264Ser",
"transcript": "XM_047436239.1",
"protein_id": "XP_047292195.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 264,
"cds_start": 790,
"cds_end": null,
"cds_length": 795,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Gly264Ser",
"transcript": "XM_047436240.1",
"protein_id": "XP_047292196.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 264,
"cds_start": 790,
"cds_end": null,
"cds_length": 795,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Gly258Ser",
"transcript": "XM_047436241.1",
"protein_id": "XP_047292197.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 258,
"cds_start": 772,
"cds_end": null,
"cds_length": 777,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1234,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.1838G>A",
"hgvs_p": null,
"transcript": "ENST00000591006.5",
"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": 2217,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.552G>A",
"hgvs_p": null,
"transcript": "ENST00000592372.5",
"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": 867,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.*425G>A",
"hgvs_p": null,
"transcript": "ENST00000593166.1",
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},
{
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"protein_coding": false,
"strand": false,
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},
{
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],
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},
{
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},
{
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],
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},
{
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "SLC25A39",
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"hgvs_c": "n.*425G>A",
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"transcript": "ENST00000593166.1",
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}
],
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"dbsnp": "rs142719822",
"frequency_reference_population": 0.000052049254,
"hom_count_reference_population": 0,
"allele_count_reference_population": 84,
"gnomad_exomes_af": 0.0000492604,
"gnomad_genomes_af": 0.000078825,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03169673681259155,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.0651,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.96,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377095.10",
"gene_symbol": "SLC25A39",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Ser"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}