← 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: 3-123296108-GCG-TGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123296108&ref=GCG&alt=TGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADCY5",
"hgnc_id": 236,
"hgvs_c": "c.3112_3114delCGCinsTCA",
"hgvs_p": "p.Arg1038Ser",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001378259.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "R",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6643,
"cdna_start": 3584,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3037,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_183357.3",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3037_3039delCGCinsTCA",
"hgvs_p": "p.Arg1013Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000462833.6",
"protein_coding": true,
"protein_id": "NP_899200.1",
"strand": false,
"transcript": "NM_183357.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "R",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6643,
"cdna_start": 3584,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3037,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462833.6",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3037_3039delCGCinsTCA",
"hgvs_p": "p.Arg1013Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_183357.3",
"protein_coding": true,
"protein_id": "ENSP00000419361.1",
"strand": false,
"transcript": "ENST00000462833.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "R",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6643,
"cdna_start": 3584,
"cds_end": null,
"cds_length": 3948,
"cds_start": 3199,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000850916.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3199_3201delCGCinsTCA",
"hgvs_p": "p.Arg1067Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520999.1",
"strand": false,
"transcript": "ENST00000850916.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "R",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6718,
"cdna_start": 3659,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3112,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378259.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3112_3114delCGCinsTCA",
"hgvs_p": "p.Arg1038Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365188.1",
"strand": false,
"transcript": "NM_001378259.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "R",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3112,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699718.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3112_3114delCGCinsTCA",
"hgvs_p": "p.Arg1038Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514543.1",
"strand": false,
"transcript": "ENST00000699718.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3962,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491190.5",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2011_2013delCGCinsTCA",
"hgvs_p": "p.Arg671Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418537.1",
"strand": false,
"transcript": "ENST00000491190.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 916,
"aa_ref": "R",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2002,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470367.2",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2002_2004delCGCinsTCA",
"hgvs_p": "p.Arg668Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514541.1",
"strand": false,
"transcript": "ENST00000470367.2",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 911,
"aa_ref": "R",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5123,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2736,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199642.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1987_1989delCGCinsTCA",
"hgvs_p": "p.Arg663Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186571.1",
"strand": false,
"transcript": "NM_001199642.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 911,
"aa_ref": "R",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2736,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000309879.9",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1987_1989delCGCinsTCA",
"hgvs_p": "p.Arg663Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308685.5",
"strand": false,
"transcript": "ENST00000309879.9",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5063,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000466617.6",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1714_1716delCGCinsTCA",
"hgvs_p": "p.Arg572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420082.2",
"strand": false,
"transcript": "ENST00000466617.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000483566.2",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1714_1716delCGCinsTCA",
"hgvs_p": "p.Arg572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420252.2",
"strand": false,
"transcript": "ENST00000483566.2",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5110,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699714.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1714_1716delCGCinsTCA",
"hgvs_p": "p.Arg572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514539.1",
"strand": false,
"transcript": "ENST00000699714.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699715.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1714_1716delCGCinsTCA",
"hgvs_p": "p.Arg572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514540.1",
"strand": false,
"transcript": "ENST00000699715.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699716.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1714_1716delCGCinsTCA",
"hgvs_p": "p.Arg572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514542.1",
"strand": false,
"transcript": "ENST00000699716.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 953,
"aa_ref": "R",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6057,
"cdna_start": 2998,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512359.3",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2113_2115delCGCinsTCA",
"hgvs_p": "p.Arg705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510661.1",
"strand": false,
"transcript": "XM_011512359.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 936,
"aa_ref": "R",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005247078.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2062_2064delCGCinsTCA",
"hgvs_p": "p.Arg688Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247135.1",
"strand": false,
"transcript": "XM_005247078.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 928,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5980,
"cdna_start": 2921,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2038,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447359.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2038_2040delCGCinsTCA",
"hgvs_p": "p.Arg680Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303315.1",
"strand": false,
"transcript": "XM_047447359.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512360.3",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2023_2025delCGCinsTCA",
"hgvs_p": "p.Arg675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510662.1",
"strand": false,
"transcript": "XM_011512360.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 920,
"aa_ref": "R",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005638.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2014_2016delCGCinsTCA",
"hgvs_p": "p.Arg672Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861127.1",
"strand": false,
"transcript": "XM_017005638.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 920,
"aa_ref": "R",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005639.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2014_2016delCGCinsTCA",
"hgvs_p": "p.Arg672Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861128.1",
"strand": false,
"transcript": "XM_017005639.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 2136,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713483.2",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2011_2013delCGCinsTCA",
"hgvs_p": "p.Arg671Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713546.1",
"strand": false,
"transcript": "XM_006713483.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 898,
"aa_ref": "R",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5176,
"cdna_start": 2117,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447360.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1948_1950delCGCinsTCA",
"hgvs_p": "p.Arg650Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303316.1",
"strand": false,
"transcript": "XM_047447360.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5055,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1939,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447361.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1939_1941delCGCinsTCA",
"hgvs_p": "p.Arg647Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303317.1",
"strand": false,
"transcript": "XM_047447361.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5120,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1936,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447362.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1936_1938delCGCinsTCA",
"hgvs_p": "p.Arg646Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303318.1",
"strand": false,
"transcript": "XM_047447362.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5292,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713484.2",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1789_1791delCGCinsTCA",
"hgvs_p": "p.Arg597Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713547.1",
"strand": false,
"transcript": "XM_006713484.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512361.2",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1789_1791delCGCinsTCA",
"hgvs_p": "p.Arg597Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510663.1",
"strand": false,
"transcript": "XM_011512361.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447363.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1789_1791delCGCinsTCA",
"hgvs_p": "p.Arg597Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303319.1",
"strand": false,
"transcript": "XM_047447363.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5058,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447364.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1789_1791delCGCinsTCA",
"hgvs_p": "p.Arg597Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303320.1",
"strand": false,
"transcript": "XM_047447364.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 795,
"aa_ref": "R",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4843,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447365.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.1639_1641delCGCinsTCA",
"hgvs_p": "p.Arg547Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303321.1",
"strand": false,
"transcript": "XM_047447365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000699717.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "n.1440_1442delCGCinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699717.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.9,
"pos": 123296108,
"ref": "GCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001378259.1"
}
]
}