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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: 1-197617699-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197617699&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197617699,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001195215.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"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.733T>C",
"hgvs_p": "p.Tyr245His",
"transcript": "NM_001195215.2",
"protein_id": "NP_001182144.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 775,
"cds_start": 733,
"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": "H",
"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.733T>C",
"hgvs_p": "p.Tyr245His",
"transcript": "ENST00000620048.6",
"protein_id": "ENSP00000479816.1",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 775,
"cds_start": 733,
"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": "H",
"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.733T>C",
"hgvs_p": "p.Tyr245His",
"transcript": "ENST00000367396.7",
"protein_id": "ENSP00000356366.3",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 426,
"cds_start": 733,
"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": "H",
"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.643T>C",
"hgvs_p": "p.Tyr215His",
"transcript": "ENST00000235453.8",
"protein_id": "ENSP00000235453.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 396,
"cds_start": 643,
"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": "H",
"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.679T>C",
"hgvs_p": "p.Tyr227His",
"transcript": "ENST00000887109.1",
"protein_id": "ENSP00000557168.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 757,
"cds_start": 679,
"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": "H",
"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.673T>C",
"hgvs_p": "p.Tyr225His",
"transcript": "ENST00000887105.1",
"protein_id": "ENSP00000557164.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 755,
"cds_start": 673,
"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": "H",
"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.619T>C",
"hgvs_p": "p.Tyr207His",
"transcript": "ENST00000887107.1",
"protein_id": "ENSP00000557166.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 737,
"cds_start": 619,
"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": "H",
"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.733T>C",
"hgvs_p": "p.Tyr245His",
"transcript": "ENST00000887108.1",
"protein_id": "ENSP00000557167.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 733,
"cds_start": 733,
"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": "H",
"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.673T>C",
"hgvs_p": "p.Tyr225His",
"transcript": "ENST00000887111.1",
"protein_id": "ENSP00000557170.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 713,
"cds_start": 673,
"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": "H",
"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.508T>C",
"hgvs_p": "p.Tyr170His",
"transcript": "ENST00000887110.1",
"protein_id": "ENSP00000557169.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 700,
"cds_start": 508,
"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": "H",
"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.733T>C",
"hgvs_p": "p.Tyr245His",
"transcript": "NM_144977.5",
"protein_id": "NP_659414.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 426,
"cds_start": 733,
"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": "H",
"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.643T>C",
"hgvs_p": "p.Tyr215His",
"transcript": "NM_001300858.2",
"protein_id": "NP_001287787.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 396,
"cds_start": 643,
"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": "H",
"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.877T>C",
"hgvs_p": "p.Tyr293His",
"transcript": "XM_011509246.3",
"protein_id": "XP_011507548.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 823,
"cds_start": 877,
"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": "H",
"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.817T>C",
"hgvs_p": "p.Tyr273His",
"transcript": "XM_011509247.2",
"protein_id": "XP_011507549.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 803,
"cds_start": 817,
"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": "H",
"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.772T>C",
"hgvs_p": "p.Tyr258His",
"transcript": "XM_011509248.3",
"protein_id": "XP_011507550.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 788,
"cds_start": 772,
"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": "H",
"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.703T>C",
"hgvs_p": "p.Tyr235His",
"transcript": "XM_011509249.3",
"protein_id": "XP_011507551.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 765,
"cds_start": 703,
"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": "H",
"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.673T>C",
"hgvs_p": "p.Tyr225His",
"transcript": "XM_005244931.3",
"protein_id": "XP_005244988.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 755,
"cds_start": 673,
"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": "H",
"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.643T>C",
"hgvs_p": "p.Tyr215His",
"transcript": "XM_047447700.1",
"protein_id": "XP_047303656.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 745,
"cds_start": 643,
"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": "H",
"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.130T>C",
"hgvs_p": "p.Tyr44His",
"transcript": "XM_024453626.2",
"protein_id": "XP_024309394.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 574,
"cds_start": 130,
"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": "H",
"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.130T>C",
"hgvs_p": "p.Tyr44His",
"transcript": "XM_047447711.1",
"protein_id": "XP_047303667.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 574,
"cds_start": 130,
"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": "H",
"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.877T>C",
"hgvs_p": "p.Tyr293His",
"transcript": "XM_011509251.4",
"protein_id": "XP_011507553.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 447,
"cds_start": 877,
"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": "H",
"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.817T>C",
"hgvs_p": "p.Tyr273His",
"transcript": "XM_047447726.1",
"protein_id": "XP_047303682.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 427,
"cds_start": 817,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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},
{
"aa_ref": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
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"intron_rank": null,
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"feature": "XM_047447730.1"
},
{
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"protein_coding": true,
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],
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"gene_symbol": "DENND1B",
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"aa_start": 225,
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"cds_start": 673,
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"feature": "XM_047447731.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "DENND1B",
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"transcript": "XM_047447715.1",
"protein_id": "XP_047303671.1",
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"biotype": "protein_coding",
"feature": "XM_047447715.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "DENND1B",
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"hgvs_c": "c.448-34446T>C",
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"transcript": "ENST00000887106.1",
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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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"exon_count": 20,
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"gene_symbol": "DENND1B",
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"transcript": "ENST00000294737.11",
"protein_id": "ENSP00000294737.7",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000294737.11"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"gene_symbol": "DENND1B",
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"transcript": "ENST00000496935.1",
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"cds_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000496935.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 20,
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"gene_symbol": "DENND1B",
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"hgvs_c": "n.998T>C",
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"transcript": "NR_125340.2",
"protein_id": null,
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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": "pseudogene",
"feature": "NR_125340.2"
}
],
"gene_symbol": "DENND1B",
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"dbsnp": null,
"frequency_reference_population": 0.0000068658496,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000686585,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7981207966804504,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.444,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.737,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.927,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001195215.2",
"gene_symbol": "DENND1B",
"hgnc_id": 28404,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.733T>C",
"hgvs_p": "p.Tyr245His"
}
],
"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
}