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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: 2-130140277-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130140277&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130140277,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_207310.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Met194Val",
"transcript": "NM_001258307.2",
"protein_id": "NP_001245236.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 314,
"cds_start": 580,
"cds_end": null,
"cds_length": 945,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": "ENST00000409943.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258307.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Met194Val",
"transcript": "ENST00000409943.8",
"protein_id": "ENSP00000386294.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 314,
"cds_start": 580,
"cds_end": null,
"cds_length": 945,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": "NM_001258307.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409943.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.790A>G",
"hgvs_p": "p.Met264Val",
"transcript": "ENST00000860854.1",
"protein_id": "ENSP00000530913.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 384,
"cds_start": 790,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860854.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.790A>G",
"hgvs_p": "p.Met264Val",
"transcript": "ENST00000944366.1",
"protein_id": "ENSP00000614425.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 384,
"cds_start": 790,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944366.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "NM_207310.4",
"protein_id": "NP_997193.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 380,
"cds_start": 778,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207310.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "ENST00000310463.10",
"protein_id": "ENSP00000308873.6",
"transcript_support_level": 2,
"aa_start": 260,
"aa_end": null,
"aa_length": 380,
"cds_start": 778,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310463.10"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val",
"transcript": "ENST00000944367.1",
"protein_id": "ENSP00000614426.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 378,
"cds_start": 778,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944367.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Met256Val",
"transcript": "ENST00000860856.1",
"protein_id": "ENSP00000530915.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 376,
"cds_start": 766,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860856.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Met240Val",
"transcript": "ENST00000860857.1",
"protein_id": "ENSP00000530916.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 360,
"cds_start": 718,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860857.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Met236Val",
"transcript": "ENST00000860853.1",
"protein_id": "ENSP00000530912.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 356,
"cds_start": 706,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860853.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Met219Val",
"transcript": "ENST00000860855.1",
"protein_id": "ENSP00000530914.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 339,
"cds_start": 655,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860855.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Met198Val",
"transcript": "ENST00000944368.1",
"protein_id": "ENSP00000614427.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 318,
"cds_start": 592,
"cds_end": null,
"cds_length": 957,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944368.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Met177Val",
"transcript": "ENST00000860852.1",
"protein_id": "ENSP00000530911.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 297,
"cds_start": 529,
"cds_end": null,
"cds_length": 894,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860852.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Met362Val",
"transcript": "XM_011512142.3",
"protein_id": "XP_011510444.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 482,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512142.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.916A>G",
"hgvs_p": "p.Met306Val",
"transcript": "XM_006712833.3",
"protein_id": "XP_006712896.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 426,
"cds_start": 916,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712833.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.904A>G",
"hgvs_p": "p.Met302Val",
"transcript": "XM_005263840.3",
"protein_id": "XP_005263897.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 422,
"cds_start": 904,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263840.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.790A>G",
"hgvs_p": "p.Met264Val",
"transcript": "XM_006712834.4",
"protein_id": "XP_006712897.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 384,
"cds_start": 790,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712834.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Met240Val",
"transcript": "XM_006712835.3",
"protein_id": "XP_006712898.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 360,
"cds_start": 718,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712835.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Met236Val",
"transcript": "XM_005263842.3",
"protein_id": "XP_005263899.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 356,
"cds_start": 706,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263842.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Met198Val",
"transcript": "XM_006712837.3",
"protein_id": "XP_006712900.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 318,
"cds_start": 592,
"cds_end": null,
"cds_length": 957,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712837.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.520A>G",
"hgvs_p": "p.Met174Val",
"transcript": "XM_047446278.1",
"protein_id": "XP_047302234.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 294,
"cds_start": 520,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446278.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.520A>G",
"hgvs_p": "p.Met174Val",
"transcript": "XM_047446279.1",
"protein_id": "XP_047302235.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 294,
"cds_start": 520,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1167,
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"cdna_length": 1800,
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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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{
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],
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{
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],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "CCDC74B",
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"dbsnp": "rs142933831",
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"hom_count_reference_population": 1,
"allele_count_reference_population": 220,
"gnomad_exomes_af": 0.000141682,
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"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05334463715553284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.0735,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.213,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_207310.4",
"gene_symbol": "CCDC74B",
"hgnc_id": 25267,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Met260Val"
}
],
"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
}