← Back to variant description
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: 5-116447034-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=116447034&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 116447034,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001300780.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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.2672C>T",
"hgvs_p": "p.Pro891Leu",
"transcript": "NM_020796.5",
"protein_id": "NP_065847.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 6828,
"mane_select": "ENST00000343348.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020796.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2672C>T",
"hgvs_p": "p.Pro891Leu",
"transcript": "ENST00000343348.11",
"protein_id": "ENSP00000345512.6",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 6828,
"mane_select": "NM_020796.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343348.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2723C>T",
"hgvs_p": "p.Pro908Leu",
"transcript": "ENST00000257414.12",
"protein_id": "ENSP00000257414.8",
"transcript_support_level": 1,
"aa_start": 908,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2723,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257414.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2672C>T",
"hgvs_p": "p.Pro891Leu",
"transcript": "ENST00000510263.5",
"protein_id": "ENSP00000424388.1",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2871,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510263.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2738C>T",
"hgvs_p": "p.Pro913Leu",
"transcript": "ENST00000879672.1",
"protein_id": "ENSP00000549731.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 3415,
"cdna_end": null,
"cdna_length": 4698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879672.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2723C>T",
"hgvs_p": "p.Pro908Leu",
"transcript": "NM_001300780.2",
"protein_id": "NP_001287709.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2723,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300780.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2672C>T",
"hgvs_p": "p.Pro891Leu",
"transcript": "ENST00000879673.1",
"protein_id": "ENSP00000549732.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879673.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2672C>T",
"hgvs_p": "p.Pro891Leu",
"transcript": "ENST00000879676.1",
"protein_id": "ENSP00000549735.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 3202,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879676.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2672C>T",
"hgvs_p": "p.Pro891Leu",
"transcript": "ENST00000917979.1",
"protein_id": "ENSP00000588038.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 6324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917979.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2672C>T",
"hgvs_p": "p.Pro891Leu",
"transcript": "ENST00000917981.1",
"protein_id": "ENSP00000588040.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 3402,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917981.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2570C>T",
"hgvs_p": "p.Pro857Leu",
"transcript": "ENST00000917982.1",
"protein_id": "ENSP00000588041.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 996,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 3245,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917982.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2561C>T",
"hgvs_p": "p.Pro854Leu",
"transcript": "ENST00000879674.1",
"protein_id": "ENSP00000549733.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 993,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879674.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2540C>T",
"hgvs_p": "p.Pro847Leu",
"transcript": "ENST00000879675.1",
"protein_id": "ENSP00000549734.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 986,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879675.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2495C>T",
"hgvs_p": "p.Pro832Leu",
"transcript": "ENST00000879671.1",
"protein_id": "ENSP00000549730.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 971,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879671.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2330C>T",
"hgvs_p": "p.Pro777Leu",
"transcript": "ENST00000917980.1",
"protein_id": "ENSP00000588039.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 916,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 3210,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917980.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "ENST00000515129.5",
"protein_id": "ENSP00000422275.1",
"transcript_support_level": 2,
"aa_start": 405,
"aa_end": null,
"aa_length": 544,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515129.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.953C>T",
"hgvs_p": "p.Pro318Leu",
"transcript": "ENST00000513137.5",
"protein_id": "ENSP00000422997.1",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 457,
"cds_start": 953,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513137.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.809C>T",
"hgvs_p": "p.Pro270Leu",
"transcript": "ENST00000503865.1",
"protein_id": "ENSP00000425364.1",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 409,
"cds_start": 809,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503865.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2738C>T",
"hgvs_p": "p.Pro913Leu",
"transcript": "XM_006714663.3",
"protein_id": "XP_006714726.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 3415,
"cdna_end": null,
"cdna_length": 6894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714663.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2738C>T",
"hgvs_p": "p.Pro913Leu",
"transcript": "XM_017009675.2",
"protein_id": "XP_016865164.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 14127,
"cdna_end": null,
"cdna_length": 17606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009675.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2738C>T",
"hgvs_p": "p.Pro913Leu",
"transcript": "XM_024446138.2",
"protein_id": "XP_024301906.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 6359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446138.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2672C>T",
"hgvs_p": "p.Pro891Leu",
"transcript": "XM_047417451.1",
"protein_id": "XP_047273407.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 3330,
"cdna_end": null,
"cdna_length": 6809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417451.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.2507C>T",
"hgvs_p": "p.Pro836Leu",
"transcript": "XM_005272042.5",
"protein_id": "XP_005272099.2",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 975,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 6663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272042.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"hgvs_c": "c.2294C>T",
"hgvs_p": "p.Pro765Leu",
"transcript": "XM_047417452.1",
"protein_id": "XP_047273408.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 904,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 5367,
"cdna_end": null,
"cdna_length": 8846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417452.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEMA6A-AS1",
"gene_hgnc_id": 51110,
"hgvs_c": "n.205-628G>A",
"hgvs_p": null,
"transcript": "ENST00000809361.1",
"protein_id": null,
"transcript_support_level": null,
"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": 466,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000809361.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEMA6A-AS1",
"gene_hgnc_id": 51110,
"hgvs_c": "n.254+582G>A",
"hgvs_p": null,
"transcript": "ENST00000809362.1",
"protein_id": null,
"transcript_support_level": null,
"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": 514,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000809362.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEMA6A-AS1",
"gene_hgnc_id": 51110,
"hgvs_c": "n.202+632G>A",
"hgvs_p": null,
"transcript": "ENST00000809363.1",
"protein_id": null,
"transcript_support_level": null,
"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": 436,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000809363.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEMA6A-AS1",
"gene_hgnc_id": 51110,
"hgvs_c": "n.252+582G>A",
"hgvs_p": null,
"transcript": "ENST00000809364.1",
"protein_id": null,
"transcript_support_level": null,
"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": 486,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000809364.1"
},
{
"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": "SEMA6A-AS1",
"gene_hgnc_id": 51110,
"hgvs_c": "n.90+513G>A",
"hgvs_p": null,
"transcript": "ENST00000809365.1",
"protein_id": null,
"transcript_support_level": null,
"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": 321,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000809365.1"
}
],
"gene_symbol": "SEMA6A",
"gene_hgnc_id": 10738,
"dbsnp": "rs185504747",
"frequency_reference_population": 0.00036062428,
"hom_count_reference_population": 4,
"allele_count_reference_population": 582,
"gnomad_exomes_af": 0.000362593,
"gnomad_genomes_af": 0.000341714,
"gnomad_exomes_ac": 530,
"gnomad_genomes_ac": 52,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10003000497817993,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.257,
"phylop100way_prediction": "Uncertain_significance",
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001300780.2",
"gene_symbol": "SEMA6A",
"hgnc_id": 10738,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2723C>T",
"hgvs_p": "p.Pro908Leu"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000809361.1",
"gene_symbol": "SEMA6A-AS1",
"hgnc_id": 51110,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.205-628G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}