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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: 9-137307159-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137307159&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137307159,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017820.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2422G>A",
"hgvs_p": "p.Gly808Ser",
"transcript": "NM_017820.5",
"protein_id": "NP_060290.3",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 876,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340951.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017820.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2422G>A",
"hgvs_p": "p.Gly808Ser",
"transcript": "ENST00000340951.9",
"protein_id": "ENSP00000340474.4",
"transcript_support_level": 1,
"aa_start": 808,
"aa_end": null,
"aa_length": 876,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017820.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340951.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*1490G>A",
"hgvs_p": null,
"transcript": "ENST00000491734.6",
"protein_id": "ENSP00000435830.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000491734.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*1490G>A",
"hgvs_p": null,
"transcript": "ENST00000491734.6",
"protein_id": "ENSP00000435830.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000491734.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2752G>A",
"hgvs_p": "p.Gly918Ser",
"transcript": "ENST00000961732.1",
"protein_id": "ENSP00000631791.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 986,
"cds_start": 2752,
"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": "ENST00000961732.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2686G>A",
"hgvs_p": "p.Gly896Ser",
"transcript": "ENST00000961738.1",
"protein_id": "ENSP00000631797.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 964,
"cds_start": 2686,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961738.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2596G>A",
"hgvs_p": "p.Gly866Ser",
"transcript": "ENST00000879818.1",
"protein_id": "ENSP00000549877.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 934,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879818.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2569G>A",
"hgvs_p": "p.Gly857Ser",
"transcript": "ENST00000879813.1",
"protein_id": "ENSP00000549872.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 925,
"cds_start": 2569,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879813.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Gly855Ser",
"transcript": "ENST00000879821.1",
"protein_id": "ENSP00000549880.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 923,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879821.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2518G>A",
"hgvs_p": "p.Gly840Ser",
"transcript": "ENST00000961736.1",
"protein_id": "ENSP00000631795.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 908,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961736.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Gly838Ser",
"transcript": "ENST00000879816.1",
"protein_id": "ENSP00000549875.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 906,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879816.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Gly825Ser",
"transcript": "ENST00000913121.1",
"protein_id": "ENSP00000583180.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 893,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913121.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2464G>A",
"hgvs_p": "p.Gly822Ser",
"transcript": "ENST00000961731.1",
"protein_id": "ENSP00000631790.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 890,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961731.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2458G>A",
"hgvs_p": "p.Gly820Ser",
"transcript": "ENST00000879822.1",
"protein_id": "ENSP00000549881.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 888,
"cds_start": 2458,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879822.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Gly809Ser",
"transcript": "ENST00000879814.1",
"protein_id": "ENSP00000549873.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 877,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879814.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2422G>A",
"hgvs_p": "p.Gly808Ser",
"transcript": "ENST00000879819.1",
"protein_id": "ENSP00000549878.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 876,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879819.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Gly795Ser",
"transcript": "ENST00000879815.1",
"protein_id": "ENSP00000549874.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 863,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879815.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Gly795Ser",
"transcript": "ENST00000961733.1",
"protein_id": "ENSP00000631792.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 863,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961733.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2380G>A",
"hgvs_p": "p.Gly794Ser",
"transcript": "ENST00000879817.1",
"protein_id": "ENSP00000549876.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 862,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879817.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2341G>A",
"hgvs_p": "p.Gly781Ser",
"transcript": "ENST00000961737.1",
"protein_id": "ENSP00000631796.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 849,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961737.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Gly779Ser",
"transcript": "ENST00000879820.1",
"protein_id": "ENSP00000549879.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 847,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879820.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Gly752Ser",
"transcript": "ENST00000961734.1",
"protein_id": "ENSP00000631793.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 820,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
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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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},
{
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"strand": false,
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],
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"gene_symbol": "EXD3",
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"hgvs_c": "n.1750G>A",
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"biotype": "retained_intron",
"feature": "ENST00000487745.5"
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],
"gene_symbol": "EXD3",
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"dbsnp": "rs540192818",
"frequency_reference_population": 0.00014149217,
"hom_count_reference_population": 0,
"allele_count_reference_population": 225,
"gnomad_exomes_af": 0.000130744,
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"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14557984471321106,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.325,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1426,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.334,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_017820.5",
"gene_symbol": "EXD3",
"hgnc_id": 26023,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2422G>A",
"hgvs_p": "p.Gly808Ser"
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],
"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
}