← Back to variant description
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: 6-142367617-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142367617&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142367617,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_198569.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "NM_198569.3",
"protein_id": "NP_940971.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1250,
"cds_start": 152,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367609.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198569.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "ENST00000367609.8",
"protein_id": "ENSP00000356581.3",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 1250,
"cds_start": 152,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198569.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367609.8"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "ENST00000367608.6",
"protein_id": "ENSP00000356580.2",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 1222,
"cds_start": 152,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367608.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "ENST00000230173.10",
"protein_id": "ENSP00000230173.6",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 1221,
"cds_start": 152,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230173.10"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "ENST00000296932.13",
"protein_id": "ENSP00000296932.8",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 1193,
"cds_start": 152,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296932.13"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "ENST00000968517.1",
"protein_id": "ENSP00000638576.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1264,
"cds_start": 152,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968517.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Thr52Asn",
"transcript": "ENST00000968518.1",
"protein_id": "ENSP00000638577.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1223,
"cds_start": 155,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968518.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "NM_001032395.3",
"protein_id": "NP_001027567.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1222,
"cds_start": 152,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032395.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "NM_020455.6",
"protein_id": "NP_065188.5",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1221,
"cds_start": 152,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020455.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "NM_001032394.3",
"protein_id": "NP_001027566.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1193,
"cds_start": 152,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032394.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.149C>A",
"hgvs_p": "p.Thr50Asn",
"transcript": "ENST00000541199.5",
"protein_id": "ENSP00000446287.1",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 240,
"cds_start": 149,
"cds_end": null,
"cds_length": 724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541199.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "ENST00000435011.6",
"protein_id": "ENSP00000438366.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 140,
"cds_start": 152,
"cds_end": null,
"cds_length": 425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435011.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Thr52Asn",
"transcript": "XM_006715516.3",
"protein_id": "XP_006715579.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1251,
"cds_start": 155,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715516.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "XM_011535964.2",
"protein_id": "XP_011534266.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1250,
"cds_start": 152,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535964.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.149C>A",
"hgvs_p": "p.Thr50Asn",
"transcript": "XM_006715517.3",
"protein_id": "XP_006715580.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1249,
"cds_start": 149,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715517.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Thr52Asn",
"transcript": "XM_006715518.3",
"protein_id": "XP_006715581.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1223,
"cds_start": 155,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715518.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Thr52Asn",
"transcript": "XM_005267061.4",
"protein_id": "XP_005267118.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1222,
"cds_start": 155,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267061.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "XM_047419102.1",
"protein_id": "XP_047275058.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1222,
"cds_start": 152,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419102.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "XM_047419103.1",
"protein_id": "XP_047275059.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1221,
"cds_start": 152,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419103.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.149C>A",
"hgvs_p": "p.Thr50Asn",
"transcript": "XM_047419104.1",
"protein_id": "XP_047275060.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1221,
"cds_start": 149,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419104.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.149C>A",
"hgvs_p": "p.Thr50Asn",
"transcript": "XM_047419105.1",
"protein_id": "XP_047275061.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1220,
"cds_start": 149,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419105.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Thr52Asn",
"transcript": "XM_047419106.1",
"protein_id": "XP_047275062.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1194,
"cds_start": 155,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419106.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn",
"transcript": "XM_047419107.1",
"protein_id": "XP_047275063.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1193,
"cds_start": 152,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419107.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Thr52Asn",
"transcript": "XM_017011085.2",
"protein_id": "XP_016866574.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1116,
"cds_start": 155,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011085.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "n.532C>A",
"hgvs_p": null,
"transcript": "ENST00000415128.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000415128.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "n.264C>A",
"hgvs_p": null,
"transcript": "ENST00000545477.1",
"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": "ENST00000545477.1"
}
],
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"dbsnp": "rs374848824",
"frequency_reference_population": 0.000006157551,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615755,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13460397720336914,
"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": 0.0754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.285,
"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_198569.3",
"gene_symbol": "ADGRG6",
"hgnc_id": 13841,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.152C>A",
"hgvs_p": "p.Thr51Asn"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}