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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: 19-8467582-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8467582&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8467582,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005968.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val",
"transcript": "NM_005968.5",
"protein_id": "NP_005959.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 730,
"cds_start": 832,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325495.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005968.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val",
"transcript": "ENST00000325495.9",
"protein_id": "ENSP00000325376.2",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 730,
"cds_start": 832,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005968.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325495.9"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Met239Val",
"transcript": "ENST00000348943.7",
"protein_id": "ENSP00000325732.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 691,
"cds_start": 715,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348943.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "ENST00000940928.1",
"protein_id": "ENSP00000610987.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 722,
"cds_start": 808,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940928.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "ENST00000903831.1",
"protein_id": "ENSP00000573890.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 707,
"cds_start": 808,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903831.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Met239Val",
"transcript": "NM_031203.4",
"protein_id": "NP_112480.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 691,
"cds_start": 715,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031203.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.601A>G",
"hgvs_p": "p.Met201Val",
"transcript": "ENST00000903832.1",
"protein_id": "ENSP00000573891.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 653,
"cds_start": 601,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903832.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Met158Val",
"transcript": "NM_001297418.2",
"protein_id": "NP_001284347.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 595,
"cds_start": 472,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297418.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Met63Val",
"transcript": "ENST00000597270.1",
"protein_id": "ENSP00000470635.1",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 187,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597270.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val",
"transcript": "ENST00000594907.5",
"protein_id": "ENSP00000472789.1",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 356,
"cds_start": 832,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594907.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Met239Val",
"transcript": "ENST00000600092.5",
"protein_id": "ENSP00000470932.1",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 351,
"cds_start": 715,
"cds_end": null,
"cds_length": 1058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600092.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Met227Val",
"transcript": "ENST00000601645.5",
"protein_id": "ENSP00000471339.1",
"transcript_support_level": 3,
"aa_start": 227,
"aa_end": null,
"aa_length": 274,
"cds_start": 679,
"cds_end": null,
"cds_length": 827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601645.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val",
"transcript": "XM_005272478.4",
"protein_id": "XP_005272535.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 715,
"cds_start": 832,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272478.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val",
"transcript": "XM_005272479.3",
"protein_id": "XP_005272536.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 712,
"cds_start": 832,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272479.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val",
"transcript": "XM_017026823.2",
"protein_id": "XP_016882312.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 697,
"cds_start": 832,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026823.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Met239Val",
"transcript": "XM_005272480.3",
"protein_id": "XP_005272537.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 676,
"cds_start": 715,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272480.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Met239Val",
"transcript": "XM_017026824.2",
"protein_id": "XP_016882313.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 673,
"cds_start": 715,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026824.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Met239Val",
"transcript": "XM_017026825.2",
"protein_id": "XP_016882314.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 658,
"cds_start": 715,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026825.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Met158Val",
"transcript": "XM_047438860.1",
"protein_id": "XP_047294816.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 610,
"cds_start": 472,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438860.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Met16Val",
"transcript": "XM_017026831.2",
"protein_id": "XP_016882320.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 468,
"cds_start": 46,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026831.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Met16Val",
"transcript": "XM_017026832.2",
"protein_id": "XP_016882321.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 453,
"cds_start": 46,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026832.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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{
"aa_ref": "?",
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"synonymous_variant"
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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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"non_coding_transcript_exon_variant"
],
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{
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"strand": true,
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"3_prime_UTR_variant"
],
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],
"gene_symbol": "HNRNPM",
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"dbsnp": "rs777883486",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32898974418640137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3540000021457672,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.8241,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.326,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.46,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.199486985954279,
"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005968.5",
"gene_symbol": "HNRNPM",
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.832A>G",
"hgvs_p": "p.Met278Val"
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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
}