← 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: 1-27551830-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27551830&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27551830,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000673934.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "NM_001371928.1",
"protein_id": "NP_001358857.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": "ENST00000673934.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000673934.1",
"protein_id": "ENSP00000501218.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": "NM_001371928.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "NM_001029882.3",
"protein_id": "NP_001025053.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000247087.10",
"protein_id": "ENSP00000247087.4",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000374011.6",
"protein_id": "ENSP00000363123.2",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000642245.1",
"protein_id": "ENSP00000495072.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000642416.1",
"protein_id": "ENSP00000494394.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 5734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000644989.1",
"protein_id": "ENSP00000495665.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_005245849.4",
"protein_id": "XP_005245906.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 6494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_005245850.4",
"protein_id": "XP_005245907.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 6514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_005245851.4",
"protein_id": "XP_005245908.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_005245852.4",
"protein_id": "XP_005245909.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 6163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_011541255.2",
"protein_id": "XP_011539557.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_011541256.3",
"protein_id": "XP_011539558.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_011541257.3",
"protein_id": "XP_011539559.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418010.1",
"protein_id": "XP_047273966.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 6586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418011.1",
"protein_id": "XP_047273967.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418012.1",
"protein_id": "XP_047273968.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418013.1",
"protein_id": "XP_047273969.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 6387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418014.1",
"protein_id": "XP_047273970.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418015.1",
"protein_id": "XP_047273971.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418016.1",
"protein_id": "XP_047273972.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418017.1",
"protein_id": "XP_047273973.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418018.1",
"protein_id": "XP_047273974.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 6160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418019.1",
"protein_id": "XP_047273975.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418020.1",
"protein_id": "XP_047273976.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 6461,
"cdna_end": null,
"cdna_length": 11702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418021.1",
"protein_id": "XP_047273977.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418022.1",
"protein_id": "XP_047273978.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 6082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047418023.1",
"protein_id": "XP_047273979.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1603,
"cds_start": 286,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "n.379C>T",
"hgvs_p": null,
"transcript": "ENST00000487743.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "n.1100C>T",
"hgvs_p": null,
"transcript": "ENST00000643308.1",
"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": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "n.1040C>T",
"hgvs_p": null,
"transcript": "XR_007059182.1",
"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": 6347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "n.2469C>T",
"hgvs_p": null,
"transcript": "XR_007059183.1",
"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": 7776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "n.822C>T",
"hgvs_p": null,
"transcript": "XR_007059184.1",
"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": 6129,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300470",
"gene_hgnc_id": null,
"hgvs_c": "n.185-3612G>A",
"hgvs_p": null,
"transcript": "ENST00000772091.1",
"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": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"dbsnp": "rs141734980",
"frequency_reference_population": 0.00046966242,
"hom_count_reference_population": 4,
"allele_count_reference_population": 757,
"gnomad_exomes_af": 0.000270592,
"gnomad_genomes_af": 0.00238105,
"gnomad_exomes_ac": 395,
"gnomad_genomes_ac": 362,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0062986016273498535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.101,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.461,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000673934.1",
"gene_symbol": "AHDC1",
"hgnc_id": 25230,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000772091.1",
"gene_symbol": "ENSG00000300470",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.185-3612G>A",
"hgvs_p": null
}
],
"clinvar_disease": "AHDC1-related disorder,AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided|AHDC1-related disorder|AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}