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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: 5-178213038-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178213038&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 178213038,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153373.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Pro413Arg",
"transcript": "NM_153373.4",
"protein_id": "NP_699204.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 450,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308158.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153373.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Pro413Arg",
"transcript": "ENST00000308158.10",
"protein_id": "ENSP00000310978.5",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 450,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153373.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308158.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.*626C>G",
"hgvs_p": null,
"transcript": "ENST00000474052.5",
"protein_id": "ENSP00000423806.1",
"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": "ENST00000474052.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.*626C>G",
"hgvs_p": null,
"transcript": "ENST00000474052.5",
"protein_id": "ENSP00000423806.1",
"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": "ENST00000474052.5"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.1945-1068C>G",
"hgvs_p": null,
"transcript": "ENST00000494126.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000494126.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1394C>G",
"hgvs_p": "p.Pro465Arg",
"transcript": "ENST00000962530.1",
"protein_id": "ENSP00000632589.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 502,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962530.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1280C>G",
"hgvs_p": "p.Pro427Arg",
"transcript": "ENST00000323594.9",
"protein_id": "ENSP00000321290.5",
"transcript_support_level": 5,
"aa_start": 427,
"aa_end": null,
"aa_length": 464,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323594.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1271C>G",
"hgvs_p": "p.Pro424Arg",
"transcript": "ENST00000885009.1",
"protein_id": "ENSP00000555068.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 461,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885009.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1268C>G",
"hgvs_p": "p.Pro423Arg",
"transcript": "ENST00000884991.1",
"protein_id": "ENSP00000555050.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 460,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884991.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1268C>G",
"hgvs_p": "p.Pro423Arg",
"transcript": "ENST00000885007.1",
"protein_id": "ENSP00000555066.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 460,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885007.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1268C>G",
"hgvs_p": "p.Pro423Arg",
"transcript": "ENST00000962531.1",
"protein_id": "ENSP00000632590.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 460,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962531.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1256C>G",
"hgvs_p": "p.Pro419Arg",
"transcript": "ENST00000884994.1",
"protein_id": "ENSP00000555052.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 456,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884994.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Pro413Arg",
"transcript": "ENST00000884993.1",
"protein_id": "ENSP00000555051.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 450,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884993.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Pro413Arg",
"transcript": "ENST00000885004.1",
"protein_id": "ENSP00000555062.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 450,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885004.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Pro413Arg",
"transcript": "ENST00000885014.1",
"protein_id": "ENSP00000555073.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 450,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885014.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Pro413Arg",
"transcript": "ENST00000885015.1",
"protein_id": "ENSP00000555074.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 450,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885015.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Pro413Arg",
"transcript": "ENST00000962523.1",
"protein_id": "ENSP00000632582.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 450,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962523.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Pro413Arg",
"transcript": "ENST00000962524.1",
"protein_id": "ENSP00000632583.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 450,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962524.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1235C>G",
"hgvs_p": "p.Pro412Arg",
"transcript": "ENST00000962527.1",
"protein_id": "ENSP00000632586.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 449,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962527.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1205C>G",
"hgvs_p": "p.Pro402Arg",
"transcript": "ENST00000885005.1",
"protein_id": "ENSP00000555064.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 439,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885005.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Pro394Arg",
"transcript": "ENST00000885011.1",
"protein_id": "ENSP00000555070.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 431,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885011.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Pro394Arg",
"transcript": "ENST00000962526.1",
"protein_id": "ENSP00000632585.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 431,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": 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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"consequences": [
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],
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"hgvs_c": "c.*827C>G",
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"transcript": "XM_017009995.2",
"protein_id": "XP_016865484.1",
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"biotype": "protein_coding",
"feature": "XM_017009995.2"
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],
"gene_symbol": "PHYKPL",
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"dbsnp": "rs781761949",
"frequency_reference_population": 0.00001610707,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000143653,
"gnomad_genomes_af": 0.0000328205,
"gnomad_exomes_ac": 21,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9383699893951416,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.642,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9754,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.965,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153373.4",
"gene_symbol": "PHYKPL",
"hgnc_id": 28249,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Pro413Arg"
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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
}