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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: 7-95407039-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=95407039&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 95407039,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000305.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.His242Arg",
"transcript": "NM_000305.3",
"protein_id": "NP_000296.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 354,
"cds_start": 725,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": "ENST00000222572.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000305.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.His242Arg",
"transcript": "ENST00000222572.8",
"protein_id": "ENSP00000222572.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 354,
"cds_start": 725,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": "NM_000305.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222572.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.788A>G",
"hgvs_p": "p.His263Arg",
"transcript": "ENST00000633192.1",
"protein_id": "ENSP00000488378.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 375,
"cds_start": 788,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633192.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.His242Arg",
"transcript": "ENST00000633531.1",
"protein_id": "ENSP00000488838.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 354,
"cds_start": 725,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633531.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.His230Arg",
"transcript": "ENST00000433091.6",
"protein_id": "ENSP00000404622.2",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 342,
"cds_start": 689,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433091.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "n.*590A>G",
"hgvs_p": null,
"transcript": "ENST00000446142.5",
"protein_id": "ENSP00000405211.1",
"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": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446142.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "n.*12A>G",
"hgvs_p": null,
"transcript": "ENST00000455123.5",
"protein_id": "ENSP00000414515.1",
"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": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "n.*590A>G",
"hgvs_p": null,
"transcript": "ENST00000446142.5",
"protein_id": "ENSP00000405211.1",
"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": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446142.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "n.*12A>G",
"hgvs_p": null,
"transcript": "ENST00000455123.5",
"protein_id": "ENSP00000414515.1",
"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": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455123.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.His255Arg",
"transcript": "ENST00000951228.1",
"protein_id": "ENSP00000621287.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 367,
"cds_start": 764,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951228.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.His241Arg",
"transcript": "ENST00000857127.1",
"protein_id": "ENSP00000527186.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 353,
"cds_start": 722,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857127.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "ENST00000951226.1",
"protein_id": "ENSP00000621285.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 351,
"cds_start": 716,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951226.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.His230Arg",
"transcript": "NM_001018161.2",
"protein_id": "NP_001018171.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 342,
"cds_start": 689,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018161.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.His230Arg",
"transcript": "ENST00000857126.1",
"protein_id": "ENSP00000527185.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 342,
"cds_start": 689,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857126.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.His229Arg",
"transcript": "ENST00000857129.1",
"protein_id": "ENSP00000527188.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 341,
"cds_start": 686,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857129.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.His242Arg",
"transcript": "ENST00000951229.1",
"protein_id": "ENSP00000621288.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 332,
"cds_start": 725,
"cds_end": null,
"cds_length": 999,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951229.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.His242Arg",
"transcript": "ENST00000857130.1",
"protein_id": "ENSP00000527189.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 311,
"cds_start": 725,
"cds_end": null,
"cds_length": 936,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857130.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.His191Arg",
"transcript": "ENST00000857132.1",
"protein_id": "ENSP00000527191.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 303,
"cds_start": 572,
"cds_end": null,
"cds_length": 912,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857132.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.His189Arg",
"transcript": "ENST00000857131.1",
"protein_id": "ENSP00000527190.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 301,
"cds_start": 566,
"cds_end": null,
"cds_length": 906,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857131.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.His168Arg",
"transcript": "ENST00000857128.1",
"protein_id": "ENSP00000527187.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 280,
"cds_start": 503,
"cds_end": null,
"cds_length": 843,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857128.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.His174Arg",
"transcript": "XM_005250453.2",
"protein_id": "XP_005250510.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 286,
"cds_start": 521,
"cds_end": null,
"cds_length": 861,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250453.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.His172Arg",
"transcript": "XM_017012357.3",
"protein_id": "XP_016867846.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 284,
"cds_start": 515,
"cds_end": null,
"cds_length": 855,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012357.3"
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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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"dbsnp": "rs768684655",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
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"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.562129557132721,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.332,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.623,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000305.3",
"gene_symbol": "PON2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.725A>G",
"hgvs_p": "p.His242Arg"
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000718462.1",
"gene_symbol": "ENSG00000233942",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.590-9143T>C",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007060439.1",
"gene_symbol": "LOC107986822",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.557+10011T>C",
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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
}