← 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: 5-177524764-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177524764&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177524764,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410826.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1717C>A",
"hgvs_p": "p.Pro573Thr",
"transcript": "NM_001190946.3",
"protein_id": "NP_001177875.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 822,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000514747.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190946.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1717C>A",
"hgvs_p": "p.Pro573Thr",
"transcript": "ENST00000514747.6",
"protein_id": "ENSP00000422131.1",
"transcript_support_level": 5,
"aa_start": 573,
"aa_end": null,
"aa_length": 822,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001190946.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514747.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.724C>A",
"hgvs_p": null,
"transcript": "ENST00000505569.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000505569.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*2947C>A",
"hgvs_p": null,
"transcript": "ENST00000506955.5",
"protein_id": "ENSP00000424961.1",
"transcript_support_level": 1,
"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": "ENST00000506955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*768C>A",
"hgvs_p": null,
"transcript": "ENST00000510163.5",
"protein_id": "ENSP00000425310.1",
"transcript_support_level": 1,
"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": "ENST00000510163.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*2947C>A",
"hgvs_p": null,
"transcript": "ENST00000506955.5",
"protein_id": "ENSP00000424961.1",
"transcript_support_level": 1,
"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": "ENST00000506955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*768C>A",
"hgvs_p": null,
"transcript": "ENST00000510163.5",
"protein_id": "ENSP00000425310.1",
"transcript_support_level": 1,
"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": "ENST00000510163.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1957C>A",
"hgvs_p": "p.Pro653Thr",
"transcript": "NM_001410826.1",
"protein_id": "NP_001397755.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 902,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410826.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1957C>A",
"hgvs_p": "p.Pro653Thr",
"transcript": "ENST00000524677.6",
"protein_id": "ENSP00000432463.2",
"transcript_support_level": 2,
"aa_start": 653,
"aa_end": null,
"aa_length": 902,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524677.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1852C>A",
"hgvs_p": "p.Pro618Thr",
"transcript": "ENST00000926804.1",
"protein_id": "ENSP00000596863.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 867,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926804.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Pro540Thr",
"transcript": "NM_001366500.1",
"protein_id": "NP_001353429.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 789,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366500.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1474C>A",
"hgvs_p": "p.Pro492Thr",
"transcript": "ENST00000926806.1",
"protein_id": "ENSP00000596865.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 741,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926806.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1717C>A",
"hgvs_p": "p.Pro573Thr",
"transcript": "ENST00000941735.1",
"protein_id": "ENSP00000611794.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 687,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941735.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1612C>A",
"hgvs_p": "p.Pro538Thr",
"transcript": "ENST00000941734.1",
"protein_id": "ENSP00000611793.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 652,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941734.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.892C>A",
"hgvs_p": "p.Pro298Thr",
"transcript": "ENST00000926807.1",
"protein_id": "ENSP00000596866.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 547,
"cds_start": 892,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926807.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.652C>A",
"hgvs_p": "p.Pro218Thr",
"transcript": "ENST00000926805.1",
"protein_id": "ENSP00000596864.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 467,
"cds_start": 652,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926805.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.595C>A",
"hgvs_p": "p.Pro199Thr",
"transcript": "NM_001366498.1",
"protein_id": "NP_001353427.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 448,
"cds_start": 595,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366498.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.595C>A",
"hgvs_p": "p.Pro199Thr",
"transcript": "NM_001366499.1",
"protein_id": "NP_001353428.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 448,
"cds_start": 595,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366499.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1852C>A",
"hgvs_p": "p.Pro618Thr",
"transcript": "XM_011534572.2",
"protein_id": "XP_011532874.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 867,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534572.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1825C>A",
"hgvs_p": "p.Pro609Thr",
"transcript": "XM_011534573.2",
"protein_id": "XP_011532875.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 858,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534573.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1642C>A",
"hgvs_p": "p.Pro548Thr",
"transcript": "XM_011534579.3",
"protein_id": "XP_011532881.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 797,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534579.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Pro540Thr",
"transcript": "XM_006714879.4",
"protein_id": "XP_006714942.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 789,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714879.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Pro540Thr",
"transcript": "XM_006714880.3",
"protein_id": "XP_006714943.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 789,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714880.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Pro540Thr",
"transcript": "XM_011534580.3",
"protein_id": "XP_011532882.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 789,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534580.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Pro529Thr",
"transcript": "XM_047417327.1",
"protein_id": "XP_047273283.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 778,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417327.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1069C>A",
"hgvs_p": "p.Pro357Thr",
"transcript": "XM_047417330.1",
"protein_id": "XP_047273286.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 606,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417330.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1009C>A",
"hgvs_p": "p.Pro337Thr",
"transcript": "XM_024446121.2",
"protein_id": "XP_024301889.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 586,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446121.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.Pro257Thr",
"transcript": "XM_047417331.1",
"protein_id": "XP_047273287.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 506,
"cds_start": 769,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417331.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1947+10C>A",
"hgvs_p": null,
"transcript": "XM_047417328.1",
"protein_id": "XP_047273284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": null,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417328.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*1244C>A",
"hgvs_p": null,
"transcript": "ENST00000510479.5",
"protein_id": "ENSP00000425002.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.2062C>A",
"hgvs_p": null,
"transcript": "XR_007058607.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058607.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*1244C>A",
"hgvs_p": null,
"transcript": "ENST00000510479.5",
"protein_id": "ENSP00000425002.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.1812+10C>A",
"hgvs_p": null,
"transcript": "XR_007058608.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.2052+10C>A",
"hgvs_p": null,
"transcript": "XR_427804.3",
"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": "XR_427804.3"
}
],
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"dbsnp": "rs1381716969",
"frequency_reference_population": 0.0000013071536,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.25769e-7,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30749475955963135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.0799,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.834,
"phylop100way_prediction": "Benign",
"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": 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_001410826.1",
"gene_symbol": "FAM193B",
"hgnc_id": 25524,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1957C>A",
"hgvs_p": "p.Pro653Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}