← 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: 19-43652320-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43652320&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43652320,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000340093.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Lys220Arg",
"transcript": "NM_002659.4",
"protein_id": "NP_002650.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 335,
"cds_start": 659,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": "ENST00000340093.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Lys220Arg",
"transcript": "ENST00000340093.8",
"protein_id": "ENSP00000339328.3",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 335,
"cds_start": 659,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": "NM_002659.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Lys175Arg",
"transcript": "ENST00000221264.8",
"protein_id": "ENSP00000221264.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 290,
"cds_start": 524,
"cds_end": null,
"cds_length": 873,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Lys220Arg",
"transcript": "ENST00000339082.7",
"protein_id": "ENSP00000342049.2",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 281,
"cds_start": 659,
"cds_end": null,
"cds_length": 846,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.607+3119A>G",
"hgvs_p": null,
"transcript": "ENST00000601723.5",
"protein_id": "ENSP00000471881.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Lys175Arg",
"transcript": "NM_001005377.3",
"protein_id": "NP_001005377.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 290,
"cds_start": 524,
"cds_end": null,
"cds_length": 873,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Lys220Arg",
"transcript": "NM_001005376.3",
"protein_id": "NP_001005376.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 281,
"cds_start": 659,
"cds_end": null,
"cds_length": 846,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Lys195Arg",
"transcript": "ENST00000599892.5",
"protein_id": "ENSP00000470029.1",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 225,
"cds_start": 584,
"cds_end": null,
"cds_length": 678,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Lys153Arg",
"transcript": "ENST00000593714.5",
"protein_id": "ENSP00000471525.1",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 183,
"cds_start": 458,
"cds_end": null,
"cds_length": 553,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"transcript": "ENST00000595038.5",
"protein_id": "ENSP00000473055.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 153,
"cds_start": 281,
"cds_end": null,
"cds_length": 462,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Lys108Arg",
"transcript": "ENST00000593447.5",
"protein_id": "ENSP00000470050.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 132,
"cds_start": 323,
"cds_end": null,
"cds_length": 399,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Lys220Arg",
"transcript": "XM_047438925.1",
"protein_id": "XP_047294881.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 335,
"cds_start": 659,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Lys215Arg",
"transcript": "XM_017026872.3",
"protein_id": "XP_016882361.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 330,
"cds_start": 644,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Lys175Arg",
"transcript": "XM_047438926.1",
"protein_id": "XP_047294882.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 290,
"cds_start": 524,
"cds_end": null,
"cds_length": 873,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "XM_047438927.1",
"protein_id": "XP_047294883.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 287,
"cds_start": 515,
"cds_end": null,
"cds_length": 864,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"transcript": "XM_047438929.1",
"protein_id": "XP_047294885.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 285,
"cds_start": 509,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Lys215Arg",
"transcript": "XM_047438931.1",
"protein_id": "XP_047294887.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 276,
"cds_start": 644,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Arg227Gly",
"transcript": "XM_047438932.1",
"protein_id": "XP_047294888.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 247,
"cds_start": 679,
"cds_end": null,
"cds_length": 744,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.380A>G",
"hgvs_p": "p.Lys127Arg",
"transcript": "XM_047438933.1",
"protein_id": "XP_047294889.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 380,
"cds_end": null,
"cds_length": 729,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Lys175Arg",
"transcript": "XM_047438935.1",
"protein_id": "XP_047294891.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 236,
"cds_start": 524,
"cds_end": null,
"cds_length": 711,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "XM_047438936.1",
"protein_id": "XP_047294892.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 233,
"cds_start": 515,
"cds_end": null,
"cds_length": 702,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.380A>G",
"hgvs_p": "p.Lys127Arg",
"transcript": "XM_047438937.1",
"protein_id": "XP_047294893.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 188,
"cds_start": 380,
"cds_end": null,
"cds_length": 567,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "n.376A>G",
"hgvs_p": null,
"transcript": "ENST00000594364.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.607+3119A>G",
"hgvs_p": null,
"transcript": "NM_001301037.2",
"protein_id": "NP_001287966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308028",
"gene_hgnc_id": null,
"hgvs_c": "n.91+12303T>C",
"hgvs_p": null,
"transcript": "ENST00000830541.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308028",
"gene_hgnc_id": null,
"hgvs_c": "n.50+12238T>C",
"hgvs_p": null,
"transcript": "ENST00000830542.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308028",
"gene_hgnc_id": null,
"hgvs_c": "n.101+11996T>C",
"hgvs_p": null,
"transcript": "ENST00000830543.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308028",
"gene_hgnc_id": null,
"hgvs_c": "n.57-11637T>C",
"hgvs_p": null,
"transcript": "ENST00000830544.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.607+3119A>G",
"hgvs_p": null,
"transcript": "XM_047438928.1",
"protein_id": "XP_047294884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.592+3119A>G",
"hgvs_p": null,
"transcript": "XM_047438930.1",
"protein_id": "XP_047294886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.473-3177A>G",
"hgvs_p": null,
"transcript": "XM_047438934.1",
"protein_id": "XP_047294890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"dbsnp": "rs2302524",
"frequency_reference_population": 0.1647807,
"hom_count_reference_population": 22884,
"allele_count_reference_population": 265904,
"gnomad_exomes_af": 0.164403,
"gnomad_genomes_af": 0.168408,
"gnomad_exomes_ac": 240282,
"gnomad_genomes_ac": 25622,
"gnomad_exomes_homalt": 20550,
"gnomad_genomes_homalt": 2334,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0025753378868103027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.0909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.532,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000340093.8",
"gene_symbol": "PLAUR",
"hgnc_id": 9053,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Lys220Arg"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000830541.1",
"gene_symbol": "ENSG00000308028",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.91+12303T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}