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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: 2-227524852-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227524852&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227524852,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001135187.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "NM_004504.5",
"protein_id": "NP_004495.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 562,
"cds_start": 631,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310078.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004504.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000310078.13",
"protein_id": "ENSP00000312059.7",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 562,
"cds_start": 631,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004504.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310078.13"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000409171.5",
"protein_id": "ENSP00000387218.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 560,
"cds_start": 631,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409171.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000373671.7",
"protein_id": "ENSP00000362775.3",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 522,
"cds_start": 631,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373671.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966411.1",
"protein_id": "ENSP00000636470.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 600,
"cds_start": 631,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966411.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000928137.1",
"protein_id": "ENSP00000598196.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 586,
"cds_start": 631,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928137.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "NM_001135187.2",
"protein_id": "NP_001128659.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 584,
"cds_start": 631,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135187.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000409979.6",
"protein_id": "ENSP00000387282.2",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 584,
"cds_start": 631,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409979.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000900794.1",
"protein_id": "ENSP00000570853.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 576,
"cds_start": 631,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900794.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966419.1",
"protein_id": "ENSP00000636478.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 565,
"cds_start": 631,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966419.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "NM_001135188.2",
"protein_id": "NP_001128660.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 560,
"cds_start": 631,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135188.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966415.1",
"protein_id": "ENSP00000636474.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 546,
"cds_start": 631,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966415.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966418.1",
"protein_id": "ENSP00000636477.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 544,
"cds_start": 631,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966418.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000409315.5",
"protein_id": "ENSP00000387154.1",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 541,
"cds_start": 631,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409315.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000928136.1",
"protein_id": "ENSP00000598195.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 539,
"cds_start": 631,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928136.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966414.1",
"protein_id": "ENSP00000636473.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 536,
"cds_start": 631,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966414.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966420.1",
"protein_id": "ENSP00000636479.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 525,
"cds_start": 631,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966420.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "NM_001135189.2",
"protein_id": "NP_001128661.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 522,
"cds_start": 631,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135189.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966412.1",
"protein_id": "ENSP00000636471.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 520,
"cds_start": 631,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966412.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966417.1",
"protein_id": "ENSP00000636476.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 501,
"cds_start": 631,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966417.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000928138.1",
"protein_id": "ENSP00000598197.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 492,
"cds_start": 631,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928138.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGFG1",
"gene_hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"transcript": "ENST00000966416.1",
"protein_id": "ENSP00000636475.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 471,
"cds_start": 631,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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{
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{
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{
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],
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"biotype": "pseudogene",
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],
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"dbsnp": "rs755915101",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31248950958251953,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.951,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001135187.2",
"gene_symbol": "AGFG1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}