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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: 7-50445972-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50445972&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 50445972,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022116.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001287492.4",
"protein_id": "NP_001274421.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": "ENST00000433017.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287492.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000433017.6",
"protein_id": "ENSP00000399997.1",
"transcript_support_level": 2,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": "NM_001287492.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433017.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000356889.8",
"protein_id": "ENSP00000349356.4",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356889.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000419119.1",
"protein_id": "ENSP00000410811.1",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2870,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419119.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001042762.5",
"protein_id": "NP_001036227.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042762.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001287493.3",
"protein_id": "NP_001274422.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287493.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001287494.4",
"protein_id": "NP_001274423.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287494.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001287495.3",
"protein_id": "NP_001274424.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287495.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001346560.3",
"protein_id": "NP_001333489.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346560.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001346561.3",
"protein_id": "NP_001333490.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346561.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001346562.3",
"protein_id": "NP_001333491.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346562.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001346563.3",
"protein_id": "NP_001333492.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346563.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001346564.3",
"protein_id": "NP_001333493.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346564.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_001346565.3",
"protein_id": "NP_001333494.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346565.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "NM_022116.7",
"protein_id": "NP_071399.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022116.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000395556.6",
"protein_id": "ENSP00000378924.2",
"transcript_support_level": 2,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395556.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000615084.4",
"protein_id": "ENSP00000483543.1",
"transcript_support_level": 3,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615084.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000617389.4",
"protein_id": "ENSP00000483126.1",
"transcript_support_level": 4,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 3259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617389.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000901206.1",
"protein_id": "ENSP00000571265.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901206.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000901207.1",
"protein_id": "ENSP00000571266.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901207.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000901208.1",
"protein_id": "ENSP00000571267.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901208.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "ENST00000901209.1",
"protein_id": "ENSP00000571268.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
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"hgvs_p": "p.Leu439Pro",
"transcript": "XM_024446863.2",
"protein_id": "XP_024302631.1",
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"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
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"cds_length": 2025,
"cdna_start": 1734,
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"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446863.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "XM_024446864.2",
"protein_id": "XP_024302632.1",
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"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446864.2"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "XM_024446865.2",
"protein_id": "XP_024302633.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446865.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro",
"transcript": "XM_047420693.1",
"protein_id": "XP_047276649.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 674,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2919,
"cdna_end": null,
"cdna_length": 4758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420693.1"
}
],
"gene_symbol": "FIGNL1",
"gene_hgnc_id": 13286,
"dbsnp": "rs1206213895",
"frequency_reference_population": 6.840853e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84085e-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": 0.9803529977798462,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.978,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_022116.7",
"gene_symbol": "FIGNL1",
"hgnc_id": 13286,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Leu439Pro"
}
],
"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
}