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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: 7-141745528-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=141745528&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 141745528,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003143.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "NM_003143.3",
"protein_id": "NP_003134.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 677,
"mane_select": "ENST00000265304.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003143.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000265304.11",
"protein_id": "ENSP00000265304.6",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 677,
"mane_select": "NM_003143.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265304.11"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000481508.1",
"protein_id": "ENSP00000419665.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481508.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000498107.5",
"protein_id": "ENSP00000419541.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498107.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Tyr117Cys",
"transcript": "ENST00000937884.1",
"protein_id": "ENSP00000607943.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 149,
"cds_start": 350,
"cds_end": null,
"cds_length": 450,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937884.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Tyr117Cys",
"transcript": "ENST00000937887.1",
"protein_id": "ENSP00000607946.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 149,
"cds_start": 350,
"cds_end": null,
"cds_length": 450,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937887.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Tyr117Cys",
"transcript": "ENST00000937892.1",
"protein_id": "ENSP00000607951.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 149,
"cds_start": 350,
"cds_end": null,
"cds_length": 450,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937892.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "NM_001256510.1",
"protein_id": "NP_001243439.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256510.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "NM_001256511.1",
"protein_id": "NP_001243440.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256511.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "NM_001256512.1",
"protein_id": "NP_001243441.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256512.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "NM_001256513.1",
"protein_id": "NP_001243442.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256513.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000465582.5",
"protein_id": "ENSP00000420485.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465582.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000484178.5",
"protein_id": "ENSP00000419388.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484178.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000612337.4",
"protein_id": "ENSP00000480488.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612337.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000872103.1",
"protein_id": "ENSP00000542162.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872103.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000872104.1",
"protein_id": "ENSP00000542163.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872104.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000872105.1",
"protein_id": "ENSP00000542164.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872105.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000872106.1",
"protein_id": "ENSP00000542165.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872106.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000872107.1",
"protein_id": "ENSP00000542166.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872107.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000872108.1",
"protein_id": "ENSP00000542167.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872108.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000937880.1",
"protein_id": "ENSP00000607939.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937880.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys",
"transcript": "ENST00000937881.1",
"protein_id": "ENSP00000607940.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 148,
"cds_start": 347,
"cds_end": null,
"cds_length": 447,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937881.1"
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "n.439A>G",
"hgvs_p": null,
"transcript": "ENST00000465167.1",
"protein_id": null,
"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": 517,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "n.460A>G",
"hgvs_p": null,
"transcript": "ENST00000469123.5",
"protein_id": null,
"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": 662,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "n.436A>G",
"hgvs_p": null,
"transcript": "ENST00000489378.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489378.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"hgvs_c": "n.530A>G",
"hgvs_p": null,
"transcript": "NR_046269.1",
"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": 764,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046269.1"
}
],
"gene_symbol": "SSBP1",
"gene_hgnc_id": 11317,
"dbsnp": null,
"frequency_reference_population": 6.861911e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86191e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8240327835083008,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.723,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8496,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.931,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003143.3",
"gene_symbol": "SSBP1",
"hgnc_id": 11317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Tyr116Cys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}