← 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: 3-122910291-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122910291&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122910291,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001256347.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3308A>G",
"hgvs_p": "p.Lys1103Arg",
"transcript": "NM_001031702.4",
"protein_id": "NP_001026872.2",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357599.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031702.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3308A>G",
"hgvs_p": "p.Lys1103Arg",
"transcript": "ENST00000357599.8",
"protein_id": "ENSP00000350215.3",
"transcript_support_level": 1,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031702.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357599.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3470A>G",
"hgvs_p": "p.Lys1157Arg",
"transcript": "NM_001256347.1",
"protein_id": "NP_001243276.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3470,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256347.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3470A>G",
"hgvs_p": "p.Lys1157Arg",
"transcript": "ENST00000451055.6",
"protein_id": "ENSP00000389588.2",
"transcript_support_level": 2,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3470,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451055.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3380A>G",
"hgvs_p": "p.Lys1127Arg",
"transcript": "NM_001437563.1",
"protein_id": "NP_001424492.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3380,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437563.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3377A>G",
"hgvs_p": "p.Lys1126Arg",
"transcript": "NM_001437565.1",
"protein_id": "NP_001424494.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437565.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3308A>G",
"hgvs_p": "p.Lys1103Arg",
"transcript": "NM_001256346.2",
"protein_id": "NP_001243275.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256346.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3308A>G",
"hgvs_p": "p.Lys1103Arg",
"transcript": "ENST00000616742.4",
"protein_id": "ENSP00000479602.1",
"transcript_support_level": 5,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616742.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3308A>G",
"hgvs_p": "p.Lys1103Arg",
"transcript": "ENST00000907747.1",
"protein_id": "ENSP00000577806.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907747.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3305A>G",
"hgvs_p": "p.Lys1102Arg",
"transcript": "NM_001437573.1",
"protein_id": "NP_001424502.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437573.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3305A>G",
"hgvs_p": "p.Lys1102Arg",
"transcript": "NM_001437623.1",
"protein_id": "NP_001424552.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437623.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3305A>G",
"hgvs_p": "p.Lys1102Arg",
"transcript": "ENST00000907744.1",
"protein_id": "ENSP00000577803.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907744.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3302A>G",
"hgvs_p": "p.Lys1101Arg",
"transcript": "ENST00000970353.1",
"protein_id": "ENSP00000640412.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970353.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Lys1095Arg",
"transcript": "ENST00000936475.1",
"protein_id": "ENSP00000606534.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936475.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3263A>G",
"hgvs_p": "p.Lys1088Arg",
"transcript": "NM_001437550.1",
"protein_id": "NP_001424479.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437550.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3263A>G",
"hgvs_p": "p.Lys1088Arg",
"transcript": "ENST00000907746.1",
"protein_id": "ENSP00000577805.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907746.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3263A>G",
"hgvs_p": "p.Lys1088Arg",
"transcript": "ENST00000970355.1",
"protein_id": "ENSP00000640414.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970355.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3260A>G",
"hgvs_p": "p.Lys1087Arg",
"transcript": "ENST00000907745.1",
"protein_id": "ENSP00000577804.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3260,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907745.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3242A>G",
"hgvs_p": "p.Lys1081Arg",
"transcript": "ENST00000970354.1",
"protein_id": "ENSP00000640413.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3242,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970354.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3233A>G",
"hgvs_p": "p.Lys1078Arg",
"transcript": "ENST00000936472.1",
"protein_id": "ENSP00000606531.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936472.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3212A>G",
"hgvs_p": "p.Lys1071Arg",
"transcript": "ENST00000936473.1",
"protein_id": "ENSP00000606532.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3212,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936473.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3206A>G",
"hgvs_p": "p.Lys1069Arg",
"transcript": "NM_001410801.1",
"protein_id": "NP_001397730.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410801.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3206A>G",
"hgvs_p": "p.Lys1069Arg",
"transcript": "ENST00000650207.1",
"protein_id": "ENSP00000496878.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650207.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3197A>G",
"hgvs_p": "p.Lys1066Arg",
"transcript": "ENST00000936474.1",
"protein_id": "ENSP00000606533.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3197,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936474.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3167A>G",
"hgvs_p": "p.Lys1056Arg",
"transcript": "ENST00000970352.1",
"protein_id": "ENSP00000640411.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3167,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970352.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3131A>G",
"hgvs_p": "p.Lys1044Arg",
"transcript": "NM_001437548.1",
"protein_id": "NP_001424477.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3131,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437548.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3131A>G",
"hgvs_p": "p.Lys1044Arg",
"transcript": "ENST00000648990.1",
"protein_id": "ENSP00000497595.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3131,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648990.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3089A>G",
"hgvs_p": "p.Lys1030Arg",
"transcript": "NM_001437562.1",
"protein_id": "NP_001424491.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1078,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437562.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3089A>G",
"hgvs_p": "p.Lys1030Arg",
"transcript": "ENST00000936476.1",
"protein_id": "ENSP00000606535.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1078,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936476.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3026A>G",
"hgvs_p": "p.Lys1009Arg",
"transcript": "NM_001256348.2",
"protein_id": "NP_001243277.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256348.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3026A>G",
"hgvs_p": "p.Lys1009Arg",
"transcript": "ENST00000195173.8",
"protein_id": "ENSP00000195173.5",
"transcript_support_level": 5,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000195173.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000451541.5",
"protein_id": "ENSP00000400828.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 196,
"cds_start": 443,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451541.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3377A>G",
"hgvs_p": "p.Lys1126Arg",
"transcript": "XM_047448346.1",
"protein_id": "XP_047304302.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448346.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3134A>G",
"hgvs_p": "p.Lys1045Arg",
"transcript": "XM_047448352.1",
"protein_id": "XP_047304308.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448352.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.3131A>G",
"hgvs_p": "p.Lys1044Arg",
"transcript": "XM_047448354.1",
"protein_id": "XP_047304310.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3131,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448354.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "n.*154A>G",
"hgvs_p": null,
"transcript": "ENST00000475244.5",
"protein_id": "ENSP00000417570.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475244.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "n.3630A>G",
"hgvs_p": null,
"transcript": "NR_046079.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046079.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "n.*154A>G",
"hgvs_p": null,
"transcript": "ENST00000475244.5",
"protein_id": "ENSP00000417570.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475244.5"
}
],
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"dbsnp": "rs1407668886",
"frequency_reference_population": 0.0000034204406,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342044,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3132680654525757,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.237,
"revel_prediction": "Benign",
"alphamissense_score": 0.2169,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.665,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256347.1",
"gene_symbol": "SEMA5B",
"hgnc_id": 10737,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3470A>G",
"hgvs_p": "p.Lys1157Arg"
}
],
"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
}