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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: 2-26310817-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26310817&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26310817,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001145168.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2707G>A",
"hgvs_p": "p.Val903Met",
"transcript": "NM_001321971.2",
"protein_id": "NP_001308900.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2707,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651242.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321971.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2707G>A",
"hgvs_p": "p.Val903Met",
"transcript": "ENST00000651242.2",
"protein_id": "ENSP00000498434.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2707,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321971.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651242.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2911G>A",
"hgvs_p": "p.Val971Met",
"transcript": "ENST00000311519.5",
"protein_id": "ENSP00000307831.1",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2911,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311519.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "n.2314G>A",
"hgvs_p": null,
"transcript": "ENST00000447444.5",
"protein_id": "ENSP00000404775.1",
"transcript_support_level": 1,
"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": "ENST00000447444.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "n.2791G>A",
"hgvs_p": null,
"transcript": "ENST00000459892.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000459892.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2911G>A",
"hgvs_p": "p.Val971Met",
"transcript": "NM_001145168.1",
"protein_id": "NP_001138640.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2911,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145168.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2704G>A",
"hgvs_p": "p.Val902Met",
"transcript": "NM_001145169.1",
"protein_id": "NP_001138641.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 997,
"cds_start": 2704,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145169.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2704G>A",
"hgvs_p": "p.Val902Met",
"transcript": "ENST00000421160.6",
"protein_id": "ENSP00000388537.2",
"transcript_support_level": 2,
"aa_start": 902,
"aa_end": null,
"aa_length": 997,
"cds_start": 2704,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421160.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2314G>A",
"hgvs_p": "p.Val772Met",
"transcript": "NM_153835.4",
"protein_id": "NP_722577.2",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 873,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153835.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2314G>A",
"hgvs_p": "p.Val772Met",
"transcript": "ENST00000333478.10",
"protein_id": "ENSP00000327396.6",
"transcript_support_level": 5,
"aa_start": 772,
"aa_end": null,
"aa_length": 873,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333478.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.1720G>A",
"hgvs_p": "p.Val574Met",
"transcript": "NM_001321975.2",
"protein_id": "NP_001308904.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 675,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321975.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.1720G>A",
"hgvs_p": "p.Val574Met",
"transcript": "NM_001393343.1",
"protein_id": "NP_001380272.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 675,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393343.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2734G>A",
"hgvs_p": "p.Val912Met",
"transcript": "XM_011532621.4",
"protein_id": "XP_011530923.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2734,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532621.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2707G>A",
"hgvs_p": "p.Val903Met",
"transcript": "XM_047443563.1",
"protein_id": "XP_047299519.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2707,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443563.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2704G>A",
"hgvs_p": "p.Val902Met",
"transcript": "XM_011532622.3",
"protein_id": "XP_011530924.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532622.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2686G>A",
"hgvs_p": "p.Val896Met",
"transcript": "XM_011532623.3",
"protein_id": "XP_011530925.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2686,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532623.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2686G>A",
"hgvs_p": "p.Val896Met",
"transcript": "XM_047443564.1",
"protein_id": "XP_047299520.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2686,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443564.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Val893Met",
"transcript": "XM_047443565.1",
"protein_id": "XP_047299521.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 994,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443565.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SELENOI",
"gene_hgnc_id": 29361,
"hgvs_c": "c.-40+2160C>T",
"hgvs_p": null,
"transcript": "ENST00000442141.5",
"protein_id": "ENSP00000415280.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442141.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "n.*1530G>A",
"hgvs_p": null,
"transcript": "ENST00000435303.1",
"protein_id": "ENSP00000394162.1",
"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": "ENST00000435303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "n.2869G>A",
"hgvs_p": null,
"transcript": "NR_135916.2",
"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": "NR_135916.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "n.3262G>A",
"hgvs_p": null,
"transcript": "NR_171656.1",
"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": "NR_171656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "n.3531G>A",
"hgvs_p": null,
"transcript": "NR_171657.1",
"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": "NR_171657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"hgvs_c": "n.*1530G>A",
"hgvs_p": null,
"transcript": "ENST00000435303.1",
"protein_id": "ENSP00000394162.1",
"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": "ENST00000435303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105374334",
"gene_hgnc_id": null,
"hgvs_c": "n.5246-1589C>T",
"hgvs_p": null,
"transcript": "XR_939853.3",
"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_939853.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105374334",
"gene_hgnc_id": null,
"hgvs_c": "n.*114C>T",
"hgvs_p": null,
"transcript": "XR_939854.3",
"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_939854.3"
}
],
"gene_symbol": "ADGRF3",
"gene_hgnc_id": 18989,
"dbsnp": "rs1279716181",
"frequency_reference_population": 0.0000061974993,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615871,
"gnomad_genomes_af": 0.00000656987,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26887398958206177,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.188,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.145,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145168.1",
"gene_symbol": "ADGRF3",
"hgnc_id": 18989,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2911G>A",
"hgvs_p": "p.Val971Met"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_939853.3",
"gene_symbol": "LOC105374334",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5246-1589C>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442141.5",
"gene_symbol": "SELENOI",
"hgnc_id": 29361,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-40+2160C>T",
"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
}