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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: 5-90724971-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90724971&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 90724971,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_032119.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9888G>A",
"hgvs_p": "p.Gly3296Gly",
"transcript": "NM_032119.4",
"protein_id": "NP_115495.3",
"transcript_support_level": null,
"aa_start": 3296,
"aa_end": null,
"aa_length": 6306,
"cds_start": 9888,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 9987,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "ENST00000405460.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032119.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9888G>A",
"hgvs_p": "p.Gly3296Gly",
"transcript": "ENST00000405460.9",
"protein_id": "ENSP00000384582.2",
"transcript_support_level": 1,
"aa_start": 3296,
"aa_end": null,
"aa_length": 6306,
"cds_start": 9888,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 9987,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "NM_032119.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405460.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.2585G>A",
"hgvs_p": null,
"transcript": "ENST00000509621.1",
"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": 5211,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000509621.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9909G>A",
"hgvs_p": "p.Gly3303Gly",
"transcript": "XM_017009963.3",
"protein_id": "XP_016865452.1",
"transcript_support_level": null,
"aa_start": 3303,
"aa_end": null,
"aa_length": 6313,
"cds_start": 9909,
"cds_end": null,
"cds_length": 18942,
"cdna_start": 10008,
"cdna_end": null,
"cdna_length": 19578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009963.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9906G>A",
"hgvs_p": "p.Gly3302Gly",
"transcript": "XM_017009964.3",
"protein_id": "XP_016865453.1",
"transcript_support_level": null,
"aa_start": 3302,
"aa_end": null,
"aa_length": 6312,
"cds_start": 9906,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 10005,
"cdna_end": null,
"cdna_length": 19575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009964.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9906G>A",
"hgvs_p": "p.Gly3302Gly",
"transcript": "XM_017009965.2",
"protein_id": "XP_016865454.1",
"transcript_support_level": null,
"aa_start": 3302,
"aa_end": null,
"aa_length": 6312,
"cds_start": 9906,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 10024,
"cdna_end": null,
"cdna_length": 19594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009965.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9885G>A",
"hgvs_p": "p.Gly3295Gly",
"transcript": "XM_047417824.1",
"protein_id": "XP_047273780.1",
"transcript_support_level": null,
"aa_start": 3295,
"aa_end": null,
"aa_length": 6305,
"cds_start": 9885,
"cds_end": null,
"cds_length": 18918,
"cdna_start": 9984,
"cdna_end": null,
"cdna_length": 19554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417824.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9828G>A",
"hgvs_p": "p.Gly3276Gly",
"transcript": "XM_017009966.3",
"protein_id": "XP_016865455.1",
"transcript_support_level": null,
"aa_start": 3276,
"aa_end": null,
"aa_length": 6286,
"cds_start": 9828,
"cds_end": null,
"cds_length": 18861,
"cdna_start": 9927,
"cdna_end": null,
"cdna_length": 19497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009966.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9813G>A",
"hgvs_p": "p.Gly3271Gly",
"transcript": "XM_017009967.2",
"protein_id": "XP_016865456.1",
"transcript_support_level": null,
"aa_start": 3271,
"aa_end": null,
"aa_length": 6281,
"cds_start": 9813,
"cds_end": null,
"cds_length": 18846,
"cdna_start": 9912,
"cdna_end": null,
"cdna_length": 19482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009967.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9909G>A",
"hgvs_p": "p.Gly3303Gly",
"transcript": "XM_017009968.3",
"protein_id": "XP_016865457.1",
"transcript_support_level": null,
"aa_start": 3303,
"aa_end": null,
"aa_length": 6253,
"cds_start": 9909,
"cds_end": null,
"cds_length": 18762,
"cdna_start": 10008,
"cdna_end": null,
"cdna_length": 19398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009968.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9909G>A",
"hgvs_p": "p.Gly3303Gly",
"transcript": "XM_017009969.3",
"protein_id": "XP_016865458.1",
"transcript_support_level": null,
"aa_start": 3303,
"aa_end": null,
"aa_length": 6171,
"cds_start": 9909,
"cds_end": null,
"cds_length": 18516,
"cdna_start": 10008,
"cdna_end": null,
"cdna_length": 19208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009969.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9909G>A",
"hgvs_p": "p.Gly3303Gly",
"transcript": "XM_017009970.3",
"protein_id": "XP_016865459.1",
"transcript_support_level": null,
"aa_start": 3303,
"aa_end": null,
"aa_length": 5002,
"cds_start": 9909,
"cds_end": null,
"cds_length": 15009,
"cdna_start": 10008,
"cdna_end": null,
"cdna_length": 15211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009970.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9909G>A",
"hgvs_p": "p.Gly3303Gly",
"transcript": "XM_017009971.3",
"protein_id": "XP_016865460.1",
"transcript_support_level": null,
"aa_start": 3303,
"aa_end": null,
"aa_length": 4963,
"cds_start": 9909,
"cds_end": null,
"cds_length": 14892,
"cdna_start": 10008,
"cdna_end": null,
"cdna_length": 16023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009971.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.3027G>A",
"hgvs_p": "p.Gly1009Gly",
"transcript": "XM_017009972.2",
"protein_id": "XP_016865461.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 4019,
"cds_start": 3027,
"cds_end": null,
"cds_length": 12060,
"cdna_start": 3114,
"cdna_end": null,
"cdna_length": 12684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009972.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.3006G>A",
"hgvs_p": "p.Gly1002Gly",
"transcript": "XM_017009973.2",
"protein_id": "XP_016865462.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 4012,
"cds_start": 3006,
"cds_end": null,
"cds_length": 12039,
"cdna_start": 3100,
"cdna_end": null,
"cdna_length": 12670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009973.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9909G>A",
"hgvs_p": "p.Gly3303Gly",
"transcript": "XM_017009974.3",
"protein_id": "XP_016865463.1",
"transcript_support_level": null,
"aa_start": 3303,
"aa_end": null,
"aa_length": 3597,
"cds_start": 9909,
"cds_end": null,
"cds_length": 10794,
"cdna_start": 10008,
"cdna_end": null,
"cdna_length": 10980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009974.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.9888G>A",
"hgvs_p": "p.Gly3296Gly",
"transcript": "XM_047417825.1",
"protein_id": "XP_047273781.1",
"transcript_support_level": null,
"aa_start": 3296,
"aa_end": null,
"aa_length": 3590,
"cds_start": 9888,
"cds_end": null,
"cds_length": 10773,
"cdna_start": 9987,
"cdna_end": null,
"cdna_length": 10980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417825.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.3032G>A",
"hgvs_p": null,
"transcript": "ENST00000640374.1",
"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": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000640374.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.307G>A",
"hgvs_p": null,
"transcript": "ENST00000640464.1",
"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": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000640464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*2914G>A",
"hgvs_p": null,
"transcript": "ENST00000640779.1",
"protein_id": "ENSP00000492527.1",
"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": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.9904G>A",
"hgvs_p": null,
"transcript": "NR_003149.2",
"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": 19474,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_003149.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*2914G>A",
"hgvs_p": null,
"transcript": "ENST00000640779.1",
"protein_id": "ENSP00000492527.1",
"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": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640779.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.265+48762G>A",
"hgvs_p": null,
"transcript": "ENST00000639431.1",
"protein_id": "ENSP00000491057.1",
"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": 611,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105379077",
"gene_hgnc_id": null,
"hgvs_c": "n.364-9162C>T",
"hgvs_p": null,
"transcript": "XR_001742802.2",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001742802.2"
}
],
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"dbsnp": "rs372603399",
"frequency_reference_population": 0.000111812806,
"hom_count_reference_population": 0,
"allele_count_reference_population": 179,
"gnomad_exomes_af": 0.00011596,
"gnomad_genomes_af": 0.0000723113,
"gnomad_exomes_ac": 168,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37599998712539673,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.376,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.056,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_032119.4",
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.9888G>A",
"hgvs_p": "p.Gly3296Gly"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_001742802.2",
"gene_symbol": "LOC105379077",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.364-9162C>T",
"hgvs_p": null
}
],
"clinvar_disease": "ADGRV1-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided|ADGRV1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}