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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: 11-47168147-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47168147&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47168147,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410995.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Gly349Asp",
"transcript": "NM_032389.6",
"protein_id": "NP_115765.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 521,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000524782.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032389.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Gly349Asp",
"transcript": "ENST00000524782.6",
"protein_id": "ENSP00000434442.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 521,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032389.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524782.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Gly388Asp",
"transcript": "ENST00000892878.1",
"protein_id": "ENSP00000562937.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 560,
"cds_start": 1163,
"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": "ENST00000892878.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Gly378Asp",
"transcript": "ENST00000946556.1",
"protein_id": "ENSP00000616615.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 550,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946556.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Gly377Asp",
"transcript": "ENST00000892879.1",
"protein_id": "ENSP00000562938.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 549,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892879.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Gly364Asp",
"transcript": "ENST00000892889.1",
"protein_id": "ENSP00000562948.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 536,
"cds_start": 1091,
"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": "ENST00000892889.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Gly363Asp",
"transcript": "NM_001410995.1",
"protein_id": "NP_001397924.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 535,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410995.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Gly363Asp",
"transcript": "ENST00000525314.6",
"protein_id": "ENSP00000434809.2",
"transcript_support_level": 3,
"aa_start": 363,
"aa_end": null,
"aa_length": 535,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525314.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Gly349Asp",
"transcript": "ENST00000924865.1",
"protein_id": "ENSP00000594924.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 519,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924865.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Gly345Asp",
"transcript": "ENST00000892884.1",
"protein_id": "ENSP00000562943.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 517,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892884.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Gly344Asp",
"transcript": "ENST00000892885.1",
"protein_id": "ENSP00000562944.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 516,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892885.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Gly344Asp",
"transcript": "ENST00000946554.1",
"protein_id": "ENSP00000616613.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 516,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946554.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Gly349Asp",
"transcript": "ENST00000924867.1",
"protein_id": "ENSP00000594926.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 512,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924867.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Gly335Asp",
"transcript": "ENST00000892881.1",
"protein_id": "ENSP00000562940.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 507,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892881.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Gly335Asp",
"transcript": "ENST00000892883.1",
"protein_id": "ENSP00000562942.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 507,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892883.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Gly330Asp",
"transcript": "ENST00000892882.1",
"protein_id": "ENSP00000562941.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 502,
"cds_start": 989,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892882.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Gly321Asp",
"transcript": "NM_001242832.2",
"protein_id": "NP_001229761.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 493,
"cds_start": 962,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242832.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Gly321Asp",
"transcript": "ENST00000426335.6",
"protein_id": "ENSP00000400226.3",
"transcript_support_level": 2,
"aa_start": 321,
"aa_end": null,
"aa_length": 493,
"cds_start": 962,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426335.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Gly314Asp",
"transcript": "ENST00000946552.1",
"protein_id": "ENSP00000616611.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 486,
"cds_start": 941,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946552.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Gly305Asp",
"transcript": "ENST00000892886.1",
"protein_id": "ENSP00000562945.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 477,
"cds_start": 914,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892886.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Gly285Asp",
"transcript": "ENST00000892880.1",
"protein_id": "ENSP00000562939.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 457,
"cds_start": 854,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892880.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000946553.1",
"protein_id": "ENSP00000616612.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 449,
"cds_start": 830,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
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"feature": "ENST00000532438.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "n.*421G>A",
"hgvs_p": null,
"transcript": "ENST00000532478.5",
"protein_id": "ENSP00000437194.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532478.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"hgvs_c": "n.*352G>A",
"hgvs_p": null,
"transcript": "ENST00000533243.5",
"protein_id": "ENSP00000433210.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533243.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000270060",
"gene_hgnc_id": null,
"hgvs_c": "n.*134G>A",
"hgvs_p": null,
"transcript": "ENST00000524412.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000524412.1"
}
],
"gene_symbol": "ARFGAP2",
"gene_hgnc_id": 13504,
"dbsnp": "rs373373969",
"frequency_reference_population": 0.00004027072,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000430948,
"gnomad_genomes_af": 0.000013142,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37697821855545044,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.2826,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.729,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410995.1",
"gene_symbol": "ARFGAP2",
"hgnc_id": 13504,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Gly363Asp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000524412.1",
"gene_symbol": "ENSG00000270060",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*134G>A",
"hgvs_p": null
}
],
"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
}