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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: 5-76617763-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=76617763&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 76617763,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004101.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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": "F2RL2",
"gene_hgnc_id": 3539,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"transcript": "NM_004101.4",
"protein_id": "NP_004092.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 374,
"cds_start": 944,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296641.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004101.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"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": "F2RL2",
"gene_hgnc_id": 3539,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"transcript": "ENST00000296641.5",
"protein_id": "ENSP00000296641.3",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 374,
"cds_start": 944,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004101.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296641.5"
},
{
"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": 36,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1521+6580G>A",
"hgvs_p": null,
"transcript": "NM_006633.5",
"protein_id": "NP_006624.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1575,
"cds_start": null,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274364.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006633.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1521+6580G>A",
"hgvs_p": null,
"transcript": "ENST00000274364.11",
"protein_id": "ENSP00000274364.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1575,
"cds_start": null,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006633.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274364.11"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.180+6580G>A",
"hgvs_p": null,
"transcript": "ENST00000396234.7",
"protein_id": "ENSP00000379535.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396234.7"
},
{
"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": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1440+6580G>A",
"hgvs_p": null,
"transcript": "ENST00000514350.5",
"protein_id": "ENSP00000423672.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": null,
"cds_end": null,
"cds_length": 2474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514350.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "F2RL2",
"gene_hgnc_id": 3539,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "NM_001256566.2",
"protein_id": "NP_001243495.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 352,
"cds_start": 878,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256566.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "F2RL2",
"gene_hgnc_id": 3539,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "ENST00000504899.1",
"protein_id": "ENSP00000426703.1",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 352,
"cds_start": 878,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504899.1"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1371+6580G>A",
"hgvs_p": null,
"transcript": "NM_001285460.2",
"protein_id": "NP_001272389.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": null,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285460.2"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1371+6580G>A",
"hgvs_p": null,
"transcript": "ENST00000379730.7",
"protein_id": "ENSP00000442313.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": null,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379730.7"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.180+6580G>A",
"hgvs_p": null,
"transcript": "NM_001285461.2",
"protein_id": "NP_001272390.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285461.2"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.180+6580G>A",
"hgvs_p": null,
"transcript": "NM_001285462.2",
"protein_id": "NP_001272391.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285462.2"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.180+6580G>A",
"hgvs_p": null,
"transcript": "ENST00000502745.5",
"protein_id": "ENSP00000426027.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502745.5"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.180+6580G>A",
"hgvs_p": null,
"transcript": "ENST00000514001.5",
"protein_id": "ENSP00000422661.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514001.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.-35+8533G>A",
"hgvs_p": null,
"transcript": "ENST00000685564.1",
"protein_id": "ENSP00000510681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685564.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.180+6580G>A",
"hgvs_p": null,
"transcript": "ENST00000509074.5",
"protein_id": "ENSP00000425351.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509074.5"
},
{
"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": 36,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1596+6580G>A",
"hgvs_p": null,
"transcript": "XM_047416641.1",
"protein_id": "XP_047272597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1600,
"cds_start": null,
"cds_end": null,
"cds_length": 4803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416641.1"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1515+6580G>A",
"hgvs_p": null,
"transcript": "XM_024454336.2",
"protein_id": "XP_024310104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1573,
"cds_start": null,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454336.2"
},
{
"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": 36,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1440+6580G>A",
"hgvs_p": null,
"transcript": "XM_005248410.4",
"protein_id": "XP_005248467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1548,
"cds_start": null,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248410.4"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1371+6580G>A",
"hgvs_p": null,
"transcript": "XM_047416642.1",
"protein_id": "XP_047272598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416642.1"
},
{
"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": 36,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1371+6580G>A",
"hgvs_p": null,
"transcript": "XM_047416643.1",
"protein_id": "XP_047272599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": null,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416643.1"
},
{
"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": 35,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "c.1521+6580G>A",
"hgvs_p": null,
"transcript": "XM_017008960.2",
"protein_id": "XP_016864449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1518,
"cds_start": null,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008960.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 2,
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"gene_symbol": "IQGAP2",
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"transcript": "XM_005248414.3",
"protein_id": "XP_005248471.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1128,
"cds_start": null,
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"cds_length": 3387,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248414.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 25,
"intron_rank": 2,
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"gene_symbol": "IQGAP2",
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"hgvs_c": "c.180+6580G>A",
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"transcript": "XM_011543108.3",
"protein_id": "XP_011541410.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_011543108.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "IQGAP2",
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"hgvs_c": "n.181-751G>A",
"hgvs_p": null,
"transcript": "ENST00000504254.5",
"protein_id": "ENSP00000423258.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504254.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "IQGAP2",
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"hgvs_c": "n.257+6580G>A",
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"transcript": "ENST00000513534.1",
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"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000513534.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "IQGAP2",
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"hgvs_c": "n.93+8533G>A",
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"transcript": "ENST00000515505.1",
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"biotype": "pseudogene",
"feature": "ENST00000515505.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "IQGAP2",
"gene_hgnc_id": 6111,
"hgvs_c": "n.268+6580G>A",
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"transcript": "ENST00000685113.1",
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"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": "retained_intron",
"feature": "ENST00000685113.1"
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],
"gene_symbol": "F2RL2",
"gene_hgnc_id": 3539,
"dbsnp": "rs765779441",
"frequency_reference_population": 0.0000049579444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000273701,
"gnomad_genomes_af": 0.0000262943,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14328014850616455,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.1028,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.364,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004101.4",
"gene_symbol": "F2RL2",
"hgnc_id": 3539,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006633.5",
"gene_symbol": "IQGAP2",
"hgnc_id": 6111,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1521+6580G>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
}