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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: 1-197617713-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197617713&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197617713,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001195215.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.719A>T",
"hgvs_p": "p.Tyr240Phe",
"transcript": "NM_001195215.2",
"protein_id": "NP_001182144.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 775,
"cds_start": 719,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620048.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195215.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.719A>T",
"hgvs_p": "p.Tyr240Phe",
"transcript": "ENST00000620048.6",
"protein_id": "ENSP00000479816.1",
"transcript_support_level": 5,
"aa_start": 240,
"aa_end": null,
"aa_length": 775,
"cds_start": 719,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195215.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620048.6"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.719A>T",
"hgvs_p": "p.Tyr240Phe",
"transcript": "ENST00000367396.7",
"protein_id": "ENSP00000356366.3",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 426,
"cds_start": 719,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367396.7"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.629A>T",
"hgvs_p": "p.Tyr210Phe",
"transcript": "ENST00000235453.8",
"protein_id": "ENSP00000235453.4",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 396,
"cds_start": 629,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000235453.8"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.665A>T",
"hgvs_p": "p.Tyr222Phe",
"transcript": "ENST00000887109.1",
"protein_id": "ENSP00000557168.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 757,
"cds_start": 665,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887109.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.659A>T",
"hgvs_p": "p.Tyr220Phe",
"transcript": "ENST00000887105.1",
"protein_id": "ENSP00000557164.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 755,
"cds_start": 659,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887105.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.605A>T",
"hgvs_p": "p.Tyr202Phe",
"transcript": "ENST00000887107.1",
"protein_id": "ENSP00000557166.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 737,
"cds_start": 605,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887107.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.719A>T",
"hgvs_p": "p.Tyr240Phe",
"transcript": "ENST00000887108.1",
"protein_id": "ENSP00000557167.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 733,
"cds_start": 719,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887108.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.659A>T",
"hgvs_p": "p.Tyr220Phe",
"transcript": "ENST00000887111.1",
"protein_id": "ENSP00000557170.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 713,
"cds_start": 659,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887111.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.494A>T",
"hgvs_p": "p.Tyr165Phe",
"transcript": "ENST00000887110.1",
"protein_id": "ENSP00000557169.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 700,
"cds_start": 494,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887110.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.719A>T",
"hgvs_p": "p.Tyr240Phe",
"transcript": "NM_144977.5",
"protein_id": "NP_659414.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 426,
"cds_start": 719,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144977.5"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.629A>T",
"hgvs_p": "p.Tyr210Phe",
"transcript": "NM_001300858.2",
"protein_id": "NP_001287787.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 396,
"cds_start": 629,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300858.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Tyr288Phe",
"transcript": "XM_011509246.3",
"protein_id": "XP_011507548.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 823,
"cds_start": 863,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509246.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Tyr268Phe",
"transcript": "XM_011509247.2",
"protein_id": "XP_011507549.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 803,
"cds_start": 803,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509247.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.Tyr253Phe",
"transcript": "XM_011509248.3",
"protein_id": "XP_011507550.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 788,
"cds_start": 758,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509248.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.689A>T",
"hgvs_p": "p.Tyr230Phe",
"transcript": "XM_011509249.3",
"protein_id": "XP_011507551.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 765,
"cds_start": 689,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509249.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.659A>T",
"hgvs_p": "p.Tyr220Phe",
"transcript": "XM_005244931.3",
"protein_id": "XP_005244988.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 755,
"cds_start": 659,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244931.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.629A>T",
"hgvs_p": "p.Tyr210Phe",
"transcript": "XM_047447700.1",
"protein_id": "XP_047303656.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 745,
"cds_start": 629,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447700.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.116A>T",
"hgvs_p": "p.Tyr39Phe",
"transcript": "XM_024453626.2",
"protein_id": "XP_024309394.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 574,
"cds_start": 116,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453626.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.116A>T",
"hgvs_p": "p.Tyr39Phe",
"transcript": "XM_047447711.1",
"protein_id": "XP_047303667.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 574,
"cds_start": 116,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447711.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Tyr288Phe",
"transcript": "XM_011509251.4",
"protein_id": "XP_011507553.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 447,
"cds_start": 863,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509251.4"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Tyr268Phe",
"transcript": "XM_047447726.1",
"protein_id": "XP_047303682.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 427,
"cds_start": 803,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
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},
{
"aa_ref": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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},
{
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],
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"cds_start": 659,
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"feature": "XM_047447731.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 12,
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"gene_symbol": "DENND1B",
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"transcript": "XM_047447715.1",
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"feature": "XM_047447715.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"biotype": "protein_coding",
"feature": "ENST00000887106.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "DENND1B",
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"transcript": "ENST00000294737.11",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000294737.11"
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{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "DENND1B",
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"biotype": "retained_intron",
"feature": "ENST00000496935.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 20,
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"gene_symbol": "DENND1B",
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"hgvs_c": "n.984A>T",
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"transcript": "NR_125340.2",
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_125340.2"
}
],
"gene_symbol": "DENND1B",
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"dbsnp": "rs371820117",
"frequency_reference_population": 0.00033340382,
"hom_count_reference_population": 0,
"allele_count_reference_population": 536,
"gnomad_exomes_af": 0.000350155,
"gnomad_genomes_af": 0.000171999,
"gnomad_exomes_ac": 510,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1514550745487213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.0698,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.94,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001195215.2",
"gene_symbol": "DENND1B",
"hgnc_id": 28404,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.719A>T",
"hgvs_p": "p.Tyr240Phe"
}
],
"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
}