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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: 19-42401821-C-CCCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42401821&ref=C&alt=CCCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42401821,
"ref": "C",
"alt": "CCCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTA",
"effect": "stop_gained,disruptive_inframe_insertion",
"transcript": "ENST00000244289.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3221_3222insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly1074_Arg1075insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_005357.4",
"protein_id": "NP_005348.2",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3460,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "ENST00000244289.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3221_3222insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly1074_Arg1075insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "ENST00000244289.9",
"protein_id": "ENSP00000244289.3",
"transcript_support_level": 1,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3460,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "NM_005357.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.105+4634_105+4635insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT",
"hgvs_p": null,
"transcript": "ENST00000594624.8",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3245_3246insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly1082_Arg1083insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "ENST00000599918.2",
"protein_id": "ENSP00000472218.2",
"transcript_support_level": 5,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3245,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3245,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2993_2994insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly998_Arg999insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "ENST00000597620.6",
"protein_id": "ENSP00000469545.2",
"transcript_support_level": 3,
"aa_start": 998,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2471_2472insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly824_Arg825insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416100.1",
"protein_id": "NP_001403029.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 826,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2456_2457insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly819_Arg820insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416101.1",
"protein_id": "NP_001403030.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 821,
"cds_start": 2456,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2351_2352insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly784_Arg785insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416102.1",
"protein_id": "NP_001403031.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 786,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2318_2319insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly773_Arg774insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416103.1",
"protein_id": "NP_001403032.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 775,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2318_2319insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly773_Arg774insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416104.1",
"protein_id": "NP_001403033.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 775,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2483,
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"cdna_length": 2791,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2228_2229insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly743_Arg744insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416105.1",
"protein_id": "NP_001403034.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
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"cds_start": 2228,
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"cdna_start": 2277,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2123_2124insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly708_Arg709insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416106.1",
"protein_id": "NP_001403035.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 710,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.1634_1635insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly545_Arg546insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416107.1",
"protein_id": "NP_001403036.1",
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"aa_start": 545,
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"cds_start": 1634,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.1580_1581insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly527_Arg528insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "NM_001416108.1",
"protein_id": "NP_001403037.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 529,
"cds_start": 1580,
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"cdna_start": 2663,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2993_2994insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly998_Arg999insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "XM_005258937.4",
"protein_id": "XP_005258994.1",
"transcript_support_level": null,
"aa_start": 998,
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"aa_length": 1000,
"cds_start": 2993,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2507_2508insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly836_Arg837insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "XM_005258939.4",
"protein_id": "XP_005258996.2",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2318_2319insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly773_Arg774insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "XM_006723218.4",
"protein_id": "XP_006723281.1",
"transcript_support_level": null,
"aa_start": 773,
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"cds_start": 2318,
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"cdna_start": 2623,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2318_2319insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG",
"hgvs_p": "p.Gly773_Arg774insArgArgGlyLeuArgGlyTerThrGlyAlaAlaGlyValAspGlyGlyCysGlyGly",
"transcript": "XM_047438835.1",
"protein_id": "XP_047294791.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
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"cds_start": 2318,
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"cdna_start": 2554,
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"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GRRGLRG*TGAAGVDGGCGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000750195.1",
"gene_symbol": "LIPE-AS1",
"hgnc_id": 48589,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.142_143insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NR_126041.1",
"gene_symbol": "LOC101930071",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.97+4634_97+4635insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}