← 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: X-57120196-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=57120196&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 57120196,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001006681.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "NM_001006681.2",
"protein_id": "NP_001006682.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434397.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006681.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000434397.3",
"protein_id": "ENSP00000404314.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001006681.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434397.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000275988.5",
"protein_id": "ENSP00000275988.5",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275988.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000333933.3",
"protein_id": "ENSP00000335008.3",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333933.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "NM_001006682.2",
"protein_id": "NP_001006683.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006682.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "NM_001006683.2",
"protein_id": "NP_001006684.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006683.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000867875.1",
"protein_id": "ENSP00000537934.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867875.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000867876.1",
"protein_id": "ENSP00000537935.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867876.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000867877.1",
"protein_id": "ENSP00000537936.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867877.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000867878.1",
"protein_id": "ENSP00000537937.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867878.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000867879.1",
"protein_id": "ENSP00000537938.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867879.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000867880.1",
"protein_id": "ENSP00000537939.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867880.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000867881.1",
"protein_id": "ENSP00000537940.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867881.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000867882.1",
"protein_id": "ENSP00000537941.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867882.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000936879.1",
"protein_id": "ENSP00000606938.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936879.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "ENST00000947950.1",
"protein_id": "ENSP00000618009.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947950.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Asp191Gly",
"transcript": "XM_005262008.6",
"protein_id": "XP_005262065.3",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 304,
"cds_start": 572,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262008.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Asp190Gly",
"transcript": "XM_005262009.6",
"protein_id": "XP_005262066.3",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 303,
"cds_start": 569,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262009.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "XM_005262010.3",
"protein_id": "XP_005262067.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262010.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "XM_011530788.4",
"protein_id": "XP_011529090.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530788.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "XM_017029552.3",
"protein_id": "XP_016885041.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 258,
"cds_start": 434,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029552.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.226-95A>G",
"hgvs_p": null,
"transcript": "NM_001282461.2",
"protein_id": "NP_001269390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282461.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.226-95A>G",
"hgvs_p": null,
"transcript": "NM_001282462.2",
"protein_id": "NP_001269391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282462.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.226-95A>G",
"hgvs_p": null,
"transcript": "ENST00000374910.3",
"protein_id": "ENSP00000364045.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374910.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.186+209A>G",
"hgvs_p": null,
"transcript": "ENST00000460948.1",
"protein_id": "ENSP00000489963.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": null,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.328-95A>G",
"hgvs_p": null,
"transcript": "XM_047442138.1",
"protein_id": "XP_047298094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPIN2B",
"gene_hgnc_id": 33147,
"hgvs_c": "c.226-95A>G",
"hgvs_p": null,
"transcript": "XM_047442139.1",
"protein_id": "XP_047298095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442139.1"
}
],
"gene_symbol": "SPIN2B",
"gene_hgnc_id": 33147,
"dbsnp": "rs1401098523",
"frequency_reference_population": 0.0000063770744,
"hom_count_reference_population": 1,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000637707,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5316814184188843,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.5847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.527,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001006681.2",
"gene_symbol": "SPIN2B",
"hgnc_id": 33147,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Asp145Gly"
}
],
"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
}