← 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: 7-90225138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90225138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 90225138,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152999.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "NM_001244944.2",
"protein_id": "NP_001231873.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 6984,
"mane_select": "ENST00000394621.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244944.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000394621.7",
"protein_id": "ENSP00000378119.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 6984,
"mane_select": "NM_001244944.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394621.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000287908.7",
"protein_id": "ENSP00000287908.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 6873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287908.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000394622.6",
"protein_id": "ENSP00000378120.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 6612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394622.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000394629.2",
"protein_id": "ENSP00000378125.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 454,
"cds_start": 56,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394629.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000394632.5",
"protein_id": "ENSP00000378128.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 419,
"cds_start": 56,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394632.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000428074.5",
"protein_id": "ENSP00000401783.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 180,
"cds_start": 56,
"cds_end": null,
"cds_length": 545,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428074.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "n.1419C>T",
"hgvs_p": null,
"transcript": "ENST00000482369.1",
"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": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482369.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "NM_001040665.2",
"protein_id": "NP_001035755.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 6821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040665.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "NM_152999.4",
"protein_id": "NP_694544.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152999.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000880619.1",
"protein_id": "ENSP00000550678.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880619.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000880620.1",
"protein_id": "ENSP00000550679.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880620.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000880621.1",
"protein_id": "ENSP00000550680.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880621.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000880622.1",
"protein_id": "ENSP00000550681.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880622.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000930434.1",
"protein_id": "ENSP00000600493.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930434.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000966513.1",
"protein_id": "ENSP00000636572.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 6906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966513.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000966514.1",
"protein_id": "ENSP00000636573.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966514.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "NM_001040666.2",
"protein_id": "NP_001035756.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 454,
"cds_start": 56,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040666.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "NM_001244945.2",
"protein_id": "NP_001231874.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 454,
"cds_start": 56,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244945.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000394626.5",
"protein_id": "ENSP00000378123.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 454,
"cds_start": 56,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394626.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "NM_001244946.2",
"protein_id": "NP_001231875.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 419,
"cds_start": 56,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244946.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000402625.6",
"protein_id": "ENSP00000384191.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 403,
"cds_start": 56,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402625.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000966516.1",
"protein_id": "ENSP00000636575.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 367,
"cds_start": 56,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966516.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000930432.1",
"protein_id": "ENSP00000600491.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 327,
"cds_start": 56,
"cds_end": null,
"cds_length": 984,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930432.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000930433.1",
"protein_id": "ENSP00000600492.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 327,
"cds_start": 56,
"cds_end": null,
"cds_length": 984,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930433.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000966515.1",
"protein_id": "ENSP00000636574.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 327,
"cds_start": 56,
"cds_end": null,
"cds_length": 984,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966515.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "ENST00000426158.1",
"protein_id": "ENSP00000415931.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 87,
"cds_start": 56,
"cds_end": null,
"cds_length": 264,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426158.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_006715921.5",
"protein_id": "XP_006715984.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 7043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715921.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_017011953.3",
"protein_id": "XP_016867442.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 6873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011953.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_017011954.3",
"protein_id": "XP_016867443.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011954.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420172.1",
"protein_id": "XP_047276128.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420172.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420173.1",
"protein_id": "XP_047276129.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 6932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420173.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420174.1",
"protein_id": "XP_047276130.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420174.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420175.1",
"protein_id": "XP_047276131.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 56,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 7045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420175.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_017011955.2",
"protein_id": "XP_016867444.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 462,
"cds_start": 56,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011955.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420176.1",
"protein_id": "XP_047276132.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 462,
"cds_start": 56,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420176.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420177.1",
"protein_id": "XP_047276133.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 462,
"cds_start": 56,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420177.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420178.1",
"protein_id": "XP_047276134.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 462,
"cds_start": 56,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420178.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420179.1",
"protein_id": "XP_047276135.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 462,
"cds_start": 56,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420179.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_017011956.3",
"protein_id": "XP_016867445.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 454,
"cds_start": 56,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011956.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_017011957.2",
"protein_id": "XP_016867446.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 454,
"cds_start": 56,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011957.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420180.1",
"protein_id": "XP_047276136.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 454,
"cds_start": 56,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420180.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_047420181.1",
"protein_id": "XP_047276137.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 454,
"cds_start": 56,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420181.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"transcript": "XM_017011958.3",
"protein_id": "XP_016867447.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 451,
"cds_start": 56,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011958.3"
}
],
"gene_symbol": "STEAP2",
"gene_hgnc_id": 17885,
"dbsnp": "rs1292087990",
"frequency_reference_population": 6.841845e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84185e-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": 0.5093724727630615,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.208,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.013,
"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_152999.4",
"gene_symbol": "STEAP2",
"hgnc_id": 17885,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu"
}
],
"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
}