← 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: 8-24349925-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=24349925&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 24349925,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265769.9",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2052G>C",
"hgvs_p": "p.Met684Ile",
"transcript": "NM_014265.6",
"protein_id": "NP_055080.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 775,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": "ENST00000265769.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2052G>C",
"hgvs_p": "p.Met684Ile",
"transcript": "ENST00000265769.9",
"protein_id": "ENSP00000265769.4",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 775,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": "NM_014265.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2052G>C",
"hgvs_p": "p.Met684Ile",
"transcript": "ENST00000699027.1",
"protein_id": "ENSP00000514095.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 796,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2052G>C",
"hgvs_p": "p.Met684Ile",
"transcript": "NM_001304351.2",
"protein_id": "NP_001291280.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 754,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 6956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Met316Ile",
"transcript": "ENST00000521629.5",
"protein_id": "ENSP00000429484.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 386,
"cds_start": 948,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.327G>C",
"hgvs_p": "p.Met109Ile",
"transcript": "ENST00000518326.1",
"protein_id": "ENSP00000430094.1",
"transcript_support_level": 3,
"aa_start": 109,
"aa_end": null,
"aa_length": 173,
"cds_start": 327,
"cds_end": null,
"cds_length": 522,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2052G>C",
"hgvs_p": "p.Met684Ile",
"transcript": "XM_006716273.4",
"protein_id": "XP_006716336.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 767,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 6995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2052G>C",
"hgvs_p": "p.Met684Ile",
"transcript": "XM_011544367.4",
"protein_id": "XP_011542669.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 746,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 6932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2056G>C",
"hgvs_p": "p.Gly686Arg",
"transcript": "XM_017012974.3",
"protein_id": "XP_016868463.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 741,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 6894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2056G>C",
"hgvs_p": "p.Gly686Arg",
"transcript": "XM_005273380.5",
"protein_id": "XP_005273437.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 736,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 6960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2056G>C",
"hgvs_p": "p.Gly686Arg",
"transcript": "XM_047421270.1",
"protein_id": "XP_047277226.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 736,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2052G>C",
"hgvs_p": "p.Met684Ile",
"transcript": "XM_017012975.3",
"protein_id": "XP_016868464.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 732,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2056G>C",
"hgvs_p": "p.Gly686Arg",
"transcript": "XM_006716274.2",
"protein_id": "XP_006716337.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 728,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2056G>C",
"hgvs_p": "p.Gly686Arg",
"transcript": "XM_011544368.4",
"protein_id": "XP_011542670.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 728,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.2180G>C",
"hgvs_p": "p.Trp727Ser",
"transcript": "XM_047421271.1",
"protein_id": "XP_047277227.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 727,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.1872G>C",
"hgvs_p": "p.Met624Ile",
"transcript": "XM_047421272.1",
"protein_id": "XP_047277228.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 715,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.1353G>C",
"hgvs_p": "p.Met451Ile",
"transcript": "XM_047421273.1",
"protein_id": "XP_047277229.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 542,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 6440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.1293G>C",
"hgvs_p": "p.Met431Ile",
"transcript": "XM_011544371.4",
"protein_id": "XP_011542673.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 522,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 6266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.1122G>C",
"hgvs_p": "p.Met374Ile",
"transcript": "XM_047421274.1",
"protein_id": "XP_047277230.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 465,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 6163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "n.147G>C",
"hgvs_p": null,
"transcript": "ENST00000518737.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "n.*1464G>C",
"hgvs_p": null,
"transcript": "ENST00000520448.5",
"protein_id": "ENSP00000430085.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "n.2199G>C",
"hgvs_p": null,
"transcript": "NR_130710.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "n.*1464G>C",
"hgvs_p": null,
"transcript": "ENST00000520448.5",
"protein_id": "ENSP00000430085.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.355+37236C>G",
"hgvs_p": null,
"transcript": "ENST00000518988.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.606+37236C>G",
"hgvs_p": null,
"transcript": "ENST00000519689.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "n.302-1307G>C",
"hgvs_p": null,
"transcript": "ENST00000520665.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.179+6038C>G",
"hgvs_p": null,
"transcript": "ENST00000521681.3",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.501+37236C>G",
"hgvs_p": null,
"transcript": "ENST00000523578.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.164+37236C>G",
"hgvs_p": null,
"transcript": "ENST00000523700.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.501+37236C>G",
"hgvs_p": null,
"transcript": "NR_125808.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "n.*40G>C",
"hgvs_p": null,
"transcript": "ENST00000523236.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"dbsnp": "rs7829965",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.033392757177352905,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.0844,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.021,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000265769.9",
"gene_symbol": "ADAM28",
"hgnc_id": 206,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2052G>C",
"hgvs_p": "p.Met684Ile"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000518988.5",
"gene_symbol": "ADAM7-AS1",
"hgnc_id": 56152,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.355+37236C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}