← 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: 4-186271704-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186271704&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "F11",
"hgnc_id": 3529,
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000128.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5167,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"chr": "4",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Plasma factor XI deficiency,not provided",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9886192083358765,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000128.4",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403665.7",
"protein_coding": true,
"protein_id": "NP_000119.1",
"strand": true,
"transcript": "NM_000128.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000403665.7",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000128.4",
"protein_coding": true,
"protein_id": "ENSP00000384957.2",
"strand": true,
"transcript": "ENST00000403665.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 238,
"cds_end": null,
"cds_length": 2064,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886358.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556417.1",
"strand": true,
"transcript": "ENST00000886358.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4679,
"cdna_start": 293,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886339.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556398.1",
"strand": true,
"transcript": "ENST00000886339.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 464,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886343.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556402.1",
"strand": true,
"transcript": "ENST00000886343.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 277,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886347.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556406.1",
"strand": true,
"transcript": "ENST00000886347.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886351.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556410.1",
"strand": true,
"transcript": "ENST00000886351.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886352.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556411.1",
"strand": true,
"transcript": "ENST00000886352.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886355.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556414.1",
"strand": true,
"transcript": "ENST00000886355.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1878,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886360.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556419.1",
"strand": true,
"transcript": "ENST00000886360.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 612,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 212,
"cds_end": null,
"cds_length": 1839,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886359.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556418.1",
"strand": true,
"transcript": "ENST00000886359.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 609,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1830,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440590.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427519.1",
"strand": true,
"transcript": "NM_001440590.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 609,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1830,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886342.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556401.1",
"strand": true,
"transcript": "ENST00000886342.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 593,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3986,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1782,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440593.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427522.1",
"strand": true,
"transcript": "NM_001440593.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 577,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1734,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440596.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427525.1",
"strand": true,
"transcript": "NM_001440596.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 255,
"cds_end": null,
"cds_length": 1728,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886357.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556416.1",
"strand": true,
"transcript": "ENST00000886357.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1608,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440605.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427534.1",
"strand": true,
"transcript": "NM_001440605.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1608,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886340.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556399.1",
"strand": true,
"transcript": "ENST00000886340.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4114,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1608,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886341.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556400.1",
"strand": true,
"transcript": "ENST00000886341.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 287,
"cds_end": null,
"cds_length": 1608,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886348.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556407.1",
"strand": true,
"transcript": "ENST00000886348.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1608,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886350.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556409.1",
"strand": true,
"transcript": "ENST00000886350.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1608,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886353.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556412.1",
"strand": true,
"transcript": "ENST00000886353.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1608,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886356.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556415.1",
"strand": true,
"transcript": "ENST00000886356.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 534,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 478,
"cds_end": null,
"cds_length": 1605,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886349.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556408.1",
"strand": true,
"transcript": "ENST00000886349.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1560,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440606.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427535.1",
"strand": true,
"transcript": "NM_001440606.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 487,
"cds_end": null,
"cds_length": 1560,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886344.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556403.1",
"strand": true,
"transcript": "ENST00000886344.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1512,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440607.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427536.1",
"strand": true,
"transcript": "NM_001440607.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1488,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886346.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556405.1",
"strand": true,
"transcript": "ENST00000886346.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 487,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1464,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440608.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427537.1",
"strand": true,
"transcript": "NM_001440608.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 444,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1335,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886345.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556404.1",
"strand": true,
"transcript": "ENST00000886345.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 444,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1335,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886354.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556413.1",
"strand": true,
"transcript": "ENST00000886354.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 162,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": 259,
"cds_end": null,
"cds_length": 489,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354804.2",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341733.1",
"strand": true,
"transcript": "NM_001354804.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 162,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": 248,
"cds_end": null,
"cds_length": 489,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000492972.6",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424479.1",
"strand": true,
"transcript": "ENST00000492972.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 626,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1881,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005262821.5",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262878.1",
"strand": true,
"transcript": "XM_005262821.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 610,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1833,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006714137.4",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714200.1",
"strand": true,
"transcript": "XM_006714137.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 594,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1785,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005262822.5",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262879.1",
"strand": true,
"transcript": "XM_005262822.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 536,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1611,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005262823.5",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262880.1",
"strand": true,
"transcript": "XM_005262823.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 395,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1188,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017007884.3",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863373.1",
"strand": true,
"transcript": "XM_017007884.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 395,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1373,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1188,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017007885.3",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863374.1",
"strand": true,
"transcript": "XM_017007885.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 394,
"aa_ref": "T",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1185,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017007886.3",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Thr51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863375.1",
"strand": true,
"transcript": "XM_017007886.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs281875243",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "not provided|Plasma factor XI deficiency",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.373,
"pos": 186271704,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.774,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_000128.4"
}
]
}