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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: 5-116446915-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=116446915&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 116446915,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001300780.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "NM_020796.5",
"protein_id": "NP_065847.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343348.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020796.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "ENST00000343348.11",
"protein_id": "ENSP00000345512.6",
"transcript_support_level": 1,
"aa_start": 931,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020796.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343348.11"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Ala948Thr",
"transcript": "ENST00000257414.12",
"protein_id": "ENSP00000257414.8",
"transcript_support_level": 1,
"aa_start": 948,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257414.12"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "ENST00000510263.5",
"protein_id": "ENSP00000424388.1",
"transcript_support_level": 1,
"aa_start": 931,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510263.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2857G>A",
"hgvs_p": "p.Ala953Thr",
"transcript": "ENST00000879672.1",
"protein_id": "ENSP00000549731.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879672.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Ala948Thr",
"transcript": "NM_001300780.2",
"protein_id": "NP_001287709.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300780.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "ENST00000879673.1",
"protein_id": "ENSP00000549732.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879673.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "ENST00000879676.1",
"protein_id": "ENSP00000549735.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879676.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "ENST00000917979.1",
"protein_id": "ENSP00000588038.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917979.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "ENST00000917981.1",
"protein_id": "ENSP00000588040.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917981.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2689G>A",
"hgvs_p": "p.Ala897Thr",
"transcript": "ENST00000917982.1",
"protein_id": "ENSP00000588041.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 996,
"cds_start": 2689,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917982.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2680G>A",
"hgvs_p": "p.Ala894Thr",
"transcript": "ENST00000879674.1",
"protein_id": "ENSP00000549733.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 993,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879674.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2659G>A",
"hgvs_p": "p.Ala887Thr",
"transcript": "ENST00000879675.1",
"protein_id": "ENSP00000549734.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 986,
"cds_start": 2659,
"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": "ENST00000879675.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Ala872Thr",
"transcript": "ENST00000879671.1",
"protein_id": "ENSP00000549730.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 971,
"cds_start": 2614,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879671.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Ala817Thr",
"transcript": "ENST00000917980.1",
"protein_id": "ENSP00000588039.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 916,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917980.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Ala445Thr",
"transcript": "ENST00000515129.5",
"protein_id": "ENSP00000422275.1",
"transcript_support_level": 2,
"aa_start": 445,
"aa_end": null,
"aa_length": 544,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515129.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Ala358Thr",
"transcript": "ENST00000513137.5",
"protein_id": "ENSP00000422997.1",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 457,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513137.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Ala310Thr",
"transcript": "ENST00000503865.1",
"protein_id": "ENSP00000425364.1",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 409,
"cds_start": 928,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503865.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2857G>A",
"hgvs_p": "p.Ala953Thr",
"transcript": "XM_006714663.3",
"protein_id": "XP_006714726.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714663.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2857G>A",
"hgvs_p": "p.Ala953Thr",
"transcript": "XM_017009675.2",
"protein_id": "XP_016865164.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009675.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2857G>A",
"hgvs_p": "p.Ala953Thr",
"transcript": "XM_024446138.2",
"protein_id": "XP_024301906.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446138.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "XM_047417451.1",
"protein_id": "XP_047273407.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2791,
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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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"gene_symbol": "SEMA6A-AS1",
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"biotype": "pseudogene",
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],
"gene_symbol": "SEMA6A",
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"dbsnp": "rs199858026",
"frequency_reference_population": 0.0000037178268,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342065,
"gnomad_genomes_af": 0.00000657315,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03508174419403076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.0653,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.114,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001300780.2",
"gene_symbol": "SEMA6A",
"hgnc_id": 10738,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Ala948Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000809361.1",
"gene_symbol": "SEMA6A-AS1",
"hgnc_id": 51110,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.204+513C>T",
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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
}