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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: 13-111217764-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=111217764&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 111217764,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001354046.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu",
"transcript": "NM_001354046.2",
"protein_id": "NP_001340975.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 862,
"cds_start": 554,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646102.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354046.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu",
"transcript": "ENST00000646102.2",
"protein_id": "ENSP00000495631.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 862,
"cds_start": 554,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001354046.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646102.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"transcript": "ENST00000375741.6",
"protein_id": "ENSP00000364893.2",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 803,
"cds_start": 617,
"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": "ENST00000375741.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu",
"transcript": "ENST00000317133.9",
"protein_id": "ENSP00000325994.5",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 782,
"cds_start": 554,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317133.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ser156Leu",
"transcript": "ENST00000375739.6",
"protein_id": "ENSP00000364891.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 753,
"cds_start": 467,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375739.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "ENST00000375736.8",
"protein_id": "ENSP00000364888.4",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 646,
"cds_start": 83,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375736.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "ENST00000426073.6",
"protein_id": "ENSP00000397068.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 646,
"cds_start": 83,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426073.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"transcript": "NM_001113511.2",
"protein_id": "NP_001106983.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 803,
"cds_start": 617,
"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": "NM_001113511.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu",
"transcript": "NM_001320852.1",
"protein_id": "NP_001307781.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 803,
"cds_start": 554,
"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": "NM_001320852.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu",
"transcript": "ENST00000700426.1",
"protein_id": "ENSP00000514984.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 803,
"cds_start": 554,
"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": "ENST00000700426.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu",
"transcript": "NM_145735.3",
"protein_id": "NP_663788.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 782,
"cds_start": 554,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145735.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ser156Leu",
"transcript": "NM_001113512.2",
"protein_id": "NP_001106984.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 753,
"cds_start": 467,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113512.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ser113Leu",
"transcript": "ENST00000923412.1",
"protein_id": "ENSP00000593471.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 743,
"cds_start": 338,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923412.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Ser103Leu",
"transcript": "NM_001320853.2",
"protein_id": "NP_001307782.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 721,
"cds_start": 308,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320853.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ser113Leu",
"transcript": "NM_001354047.1",
"protein_id": "NP_001340976.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 710,
"cds_start": 338,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354047.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "NM_001354048.1",
"protein_id": "NP_001340977.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 705,
"cds_start": 83,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354048.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "NM_001354049.2",
"protein_id": "NP_001340978.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 705,
"cds_start": 83,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354049.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "NM_001354050.2",
"protein_id": "NP_001340979.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 705,
"cds_start": 83,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354050.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "NM_001354051.2",
"protein_id": "NP_001340980.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 705,
"cds_start": 83,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354051.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "ENST00000218789.9",
"protein_id": "ENSP00000218789.5",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 705,
"cds_start": 83,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218789.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "NM_001354054.2",
"protein_id": "NP_001340983.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 658,
"cds_start": 83,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354054.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "NM_001113513.2",
"protein_id": "NP_001106985.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 646,
"cds_start": 83,
"cds_end": null,
"cds_length": 1941,
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"transcript": "XM_047430748.1",
"protein_id": "XP_047286704.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 347,
"cds_start": 83,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430748.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "XM_047430750.1",
"protein_id": "XP_047286706.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 347,
"cds_start": 83,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430750.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ser28Leu",
"transcript": "XM_047430751.1",
"protein_id": "XP_047286707.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 347,
"cds_start": 83,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "n.83C>T",
"hgvs_p": null,
"transcript": "ENST00000469877.5",
"protein_id": "ENSP00000418235.1",
"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": "ENST00000469877.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "n.1462C>T",
"hgvs_p": null,
"transcript": "XR_007063704.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007063704.1"
}
],
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"dbsnp": "rs534618453",
"frequency_reference_population": 0.00006753023,
"hom_count_reference_population": 1,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.0000704571,
"gnomad_genomes_af": 0.0000394192,
"gnomad_exomes_ac": 103,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09932377934455872,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.293,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001354046.2",
"gene_symbol": "ARHGEF7",
"hgnc_id": 15607,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu"
}
],
"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
}