← 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: 1-92655773-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92655773&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92655773,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000684568.2",
"consequences": [
{
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1392+6946A>G",
"hgvs_p": null,
"transcript": "NM_001350197.2",
"protein_id": "NP_001337126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": -4,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": "ENST00000684568.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1392+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000684568.2",
"protein_id": "ENSP00000506999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": -4,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": "NM_001350197.2",
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1377+7647A>G",
"hgvs_p": null,
"transcript": "ENST00000540033.3",
"protein_id": "ENSP00000440826.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": -4,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2466,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1344+10166A>G",
"hgvs_p": null,
"transcript": "ENST00000370331.5",
"protein_id": "ENSP00000359356.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": -4,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7403,
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1392+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000706846.1",
"protein_id": "ENSP00000516588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": -4,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8056,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1377+7647A>G",
"hgvs_p": null,
"transcript": "NM_001308248.2",
"protein_id": "NP_001295177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": -4,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7442,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1368+7647A>G",
"hgvs_p": null,
"transcript": "NM_001377210.1",
"protein_id": "NP_001364139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8230,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1368+7647A>G",
"hgvs_p": null,
"transcript": "ENST00000706843.1",
"protein_id": "ENSP00000516584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2490,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1344+10166A>G",
"hgvs_p": null,
"transcript": "NM_005665.6",
"protein_id": "NP_005656.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": -4,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7409,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1257+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000706885.1",
"protein_id": "ENSP00000516601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": -4,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7389,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1392+6946A>G",
"hgvs_p": null,
"transcript": "NM_001377211.1",
"protein_id": "NP_001364140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7657,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1245+7647A>G",
"hgvs_p": null,
"transcript": "NM_001377212.1",
"protein_id": "NP_001364141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": -4,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7648,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1473+6946A>G",
"hgvs_p": null,
"transcript": "NM_001377213.1",
"protein_id": "NP_001364142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7886,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1473+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000706867.1",
"protein_id": "ENSP00000516594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3443,
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1392+6946A>G",
"hgvs_p": null,
"transcript": "NM_001350198.2",
"protein_id": "NP_001337127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7805,
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1392+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000706868.1",
"protein_id": "ENSP00000516595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "n.107+7647A>G",
"hgvs_p": null,
"transcript": "ENST00000468580.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "n.115+10166A>G",
"hgvs_p": null,
"transcript": "ENST00000492613.1",
"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": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "n.*1225+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000706845.1",
"protein_id": "ENSP00000516587.1",
"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": 7919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "n.310-51974A>G",
"hgvs_p": null,
"transcript": "ENST00000706869.1",
"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": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "n.1429+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000706870.1",
"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": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "n.180+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000706883.1",
"protein_id": "ENSP00000516600.1",
"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": 8471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "n.1717+6946A>G",
"hgvs_p": null,
"transcript": "ENST00000706884.1",
"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": 2219,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1605+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002269.2",
"protein_id": "XP_016857758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2897,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1596+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002270.3",
"protein_id": "XP_016857759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": -4,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3685,
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1524+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002271.3",
"protein_id": "XP_016857760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 903,
"cds_start": -4,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2816,
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1515+6946A>G",
"hgvs_p": null,
"transcript": "XM_047430040.1",
"protein_id": "XP_047285996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": -4,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3604,
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1605+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002272.2",
"protein_id": "XP_016857761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 897,
"cds_start": -4,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2798,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1473+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002273.3",
"protein_id": "XP_016857762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": -4,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3103,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1473+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002274.1",
"protein_id": "XP_016857763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": -4,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2864,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1473+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002275.1",
"protein_id": "XP_016857764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": -4,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2852,
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1524+6946A>G",
"hgvs_p": null,
"transcript": "XM_024449686.2",
"protein_id": "XP_024305454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": -4,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2717,
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1377+7647A>G",
"hgvs_p": null,
"transcript": "XM_017002277.2",
"protein_id": "XP_016857766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2669,
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1368+7647A>G",
"hgvs_p": null,
"transcript": "XM_047430051.1",
"protein_id": "XP_047286007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": -4,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3457,
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1458+7647A>G",
"hgvs_p": null,
"transcript": "XM_017002278.2",
"protein_id": "XP_016857767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": -4,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2651,
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1344+10166A>G",
"hgvs_p": null,
"transcript": "XM_047430054.1",
"protein_id": "XP_047286010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1338+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002279.2",
"protein_id": "XP_016857768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2691,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1425+10166A>G",
"hgvs_p": null,
"transcript": "XM_024449689.2",
"protein_id": "XP_024305457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2618,
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1257+6946A>G",
"hgvs_p": null,
"transcript": "XM_024449690.2",
"protein_id": "XP_024305458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": -4,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2610,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1605+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002282.2",
"protein_id": "XP_016857771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": -4,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2808,
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.981+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002286.3",
"protein_id": "XP_016857775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2792,
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.981+6946A>G",
"hgvs_p": null,
"transcript": "XM_017002288.1",
"protein_id": "XP_016857777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "n.1621+6946A>G",
"hgvs_p": null,
"transcript": "XR_001737401.2",
"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": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"dbsnp": "rs10747448",
"frequency_reference_population": 0.92121756,
"hom_count_reference_population": 64667,
"allele_count_reference_population": 140213,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.921218,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 140213,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 64667,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.212,
"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": "ENST00000684568.2",
"gene_symbol": "EVI5",
"hgnc_id": 3501,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1392+6946A>G",
"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
}