← 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: 2-227533741-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227533741&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227533741,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001135187.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Ile336Thr",
"transcript": "NM_004504.5",
"protein_id": "NP_004495.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 562,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 8677,
"mane_select": "ENST00000310078.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004504.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Ile336Thr",
"transcript": "ENST00000310078.13",
"protein_id": "ENSP00000312059.7",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 562,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 8677,
"mane_select": "NM_004504.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310078.13"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Ile336Thr",
"transcript": "ENST00000409171.5",
"protein_id": "ENSP00000387218.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 560,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409171.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Ile296Thr",
"transcript": "ENST00000373671.7",
"protein_id": "ENSP00000362775.3",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 522,
"cds_start": 887,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373671.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Ile360Thr",
"transcript": "ENST00000966411.1",
"protein_id": "ENSP00000636470.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 600,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966411.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Ile360Thr",
"transcript": "ENST00000928137.1",
"protein_id": "ENSP00000598196.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 586,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928137.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Ile360Thr",
"transcript": "NM_001135187.2",
"protein_id": "NP_001128659.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 584,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135187.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Ile360Thr",
"transcript": "ENST00000409979.6",
"protein_id": "ENSP00000387282.2",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 584,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409979.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Ile336Thr",
"transcript": "ENST00000900794.1",
"protein_id": "ENSP00000570853.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 576,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900794.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Ile360Thr",
"transcript": "ENST00000966419.1",
"protein_id": "ENSP00000636478.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 565,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966419.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Ile336Thr",
"transcript": "NM_001135188.2",
"protein_id": "NP_001128660.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 560,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 8671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135188.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Ile320Thr",
"transcript": "ENST00000966415.1",
"protein_id": "ENSP00000636474.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 546,
"cds_start": 959,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966415.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Ile320Thr",
"transcript": "ENST00000966418.1",
"protein_id": "ENSP00000636477.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 544,
"cds_start": 959,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966418.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Ile336Thr",
"transcript": "ENST00000409315.5",
"protein_id": "ENSP00000387154.1",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 541,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409315.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Ile336Thr",
"transcript": "ENST00000928136.1",
"protein_id": "ENSP00000598195.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 539,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928136.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Ile296Thr",
"transcript": "ENST00000966414.1",
"protein_id": "ENSP00000636473.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 536,
"cds_start": 887,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966414.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Ile320Thr",
"transcript": "ENST00000966420.1",
"protein_id": "ENSP00000636479.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 525,
"cds_start": 959,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966420.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Ile296Thr",
"transcript": "NM_001135189.2",
"protein_id": "NP_001128661.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 522,
"cds_start": 887,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 8557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135189.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Ile296Thr",
"transcript": "ENST00000966412.1",
"protein_id": "ENSP00000636471.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 520,
"cds_start": 887,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966412.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Ile296Thr",
"transcript": "ENST00000966417.1",
"protein_id": "ENSP00000636476.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 501,
"cds_start": 887,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.815-1104T>C",
"hgvs_p": null,
"transcript": "ENST00000928138.1",
"protein_id": "ENSP00000598197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.815-1167T>C",
"hgvs_p": null,
"transcript": "ENST00000966416.1",
"protein_id": "ENSP00000636475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.695-1104T>C",
"hgvs_p": null,
"transcript": "ENST00000966413.1",
"protein_id": "ENSP00000636472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.694+8826T>C",
"hgvs_p": null,
"transcript": "ENST00000966421.1",
"protein_id": "ENSP00000636480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.*60T>C",
"hgvs_p": null,
"transcript": "ENST00000456594.1",
"protein_id": "ENSP00000405429.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456594.1"
}
],
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"dbsnp": "rs143989711",
"frequency_reference_population": 0.00019831776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 320,
"gnomad_exomes_af": 0.000203934,
"gnomad_genomes_af": 0.000144437,
"gnomad_exomes_ac": 298,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05755060911178589,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.6878,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.28,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001135187.2",
"gene_symbol": "AGFG1",
"hgnc_id": 5175,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Ile360Thr"
}
],
"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
}