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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: 12-130992364-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=130992364&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 130992364,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001330497.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ser313Leu",
"transcript": "NM_198827.5",
"protein_id": "NP_942122.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 874,
"cds_start": 938,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261654.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198827.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ser313Leu",
"transcript": "ENST00000261654.10",
"protein_id": "ENSP00000261654.5",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 874,
"cds_start": 938,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198827.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261654.10"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu",
"transcript": "ENST00000535015.5",
"protein_id": "ENSP00000444425.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 906,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535015.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu",
"transcript": "NM_001330497.2",
"protein_id": "NP_001317426.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 906,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330497.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ser313Leu",
"transcript": "ENST00000881063.1",
"protein_id": "ENSP00000551122.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 897,
"cds_start": 938,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881063.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ser313Leu",
"transcript": "ENST00000964278.1",
"protein_id": "ENSP00000634337.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 874,
"cds_start": 938,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964278.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"transcript": "ENST00000881062.1",
"protein_id": "ENSP00000551121.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 846,
"cds_start": 854,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881062.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ser313Leu",
"transcript": "ENST00000881059.1",
"protein_id": "ENSP00000551118.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 843,
"cds_start": 938,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881059.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ser313Leu",
"transcript": "ENST00000881060.1",
"protein_id": "ENSP00000551119.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 802,
"cds_start": 938,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881060.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ser168Leu",
"transcript": "ENST00000881061.1",
"protein_id": "ENSP00000551120.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 729,
"cds_start": 503,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881061.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu",
"transcript": "XM_011538204.2",
"protein_id": "XP_011536506.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 875,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538204.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"transcript": "XM_011538205.2",
"protein_id": "XP_011536507.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 846,
"cds_start": 854,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538205.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu",
"transcript": "XM_011538206.2",
"protein_id": "XP_011536508.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 834,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538206.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ser253Leu",
"transcript": "XM_005253566.2",
"protein_id": "XP_005253623.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 814,
"cds_start": 758,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253566.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu",
"transcript": "XM_011538207.2",
"protein_id": "XP_011536509.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 807,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538207.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ser313Leu",
"transcript": "XM_047428717.1",
"protein_id": "XP_047284673.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 775,
"cds_start": 938,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428717.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Leu",
"transcript": "XM_011538208.2",
"protein_id": "XP_011536510.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 761,
"cds_start": 599,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538208.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu",
"transcript": "XM_011538209.2",
"protein_id": "XP_011536511.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 738,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538209.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu",
"transcript": "XM_047428718.1",
"protein_id": "XP_047284674.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 735,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428718.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ser168Leu",
"transcript": "XM_047428719.1",
"protein_id": "XP_047284675.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 729,
"cds_start": 503,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428719.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu",
"transcript": "XM_011538210.3",
"protein_id": "XP_011536512.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 646,
"cds_start": 1034,
"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": "XM_011538210.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"transcript": "XM_047428720.1",
"protein_id": "XP_047284676.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 586,
"cds_start": 854,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
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"feature": "XM_047428720.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 3,
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"gene_symbol": "ADGRD1-AS1",
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"biotype": "pseudogene",
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},
{
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"strand": false,
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"gene_symbol": "ADGRD1-AS1",
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"biotype": "pseudogene",
"feature": "NR_131950.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ADGRD1-AS1",
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"hgvs_c": "n.61-1227G>A",
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"biotype": "pseudogene",
"feature": "ENST00000536673.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ADGRD1-AS1",
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"hgvs_c": "n.70-1227G>A",
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"transcript": "NR_131951.1",
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"biotype": "pseudogene",
"feature": "NR_131951.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 18,
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"gene_symbol": "ADGRD1",
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"hgvs_c": "c.-1850C>T",
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"transcript": "XM_011538211.3",
"protein_id": "XP_011536513.1",
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"biotype": "protein_coding",
"feature": "XM_011538211.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.*96C>T",
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"transcript": "ENST00000542091.5",
"protein_id": "ENSP00000442501.1",
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"aa_length": 219,
"cds_start": null,
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"cds_length": 662,
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"biotype": "protein_coding",
"feature": "ENST00000542091.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "n.*69C>T",
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"transcript": "ENST00000537600.2",
"protein_id": null,
"transcript_support_level": 4,
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"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": "ENST00000537600.2"
}
],
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"dbsnp": "rs764392187",
"frequency_reference_population": 0.000008675854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889485,
"gnomad_genomes_af": 0.00000657229,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20920029282569885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.1311,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.147,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_001330497.2",
"gene_symbol": "ADGRD1",
"hgnc_id": 19893,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000542980.1",
"gene_symbol": "ADGRD1-AS1",
"hgnc_id": 53314,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.262G>A",
"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
}