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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: 22-30935305-GCG-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30935305&ref=GCG&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MORC2",
"hgnc_id": 23573,
"hgvs_c": "c.1753_1755delCGCinsTGT",
"hgvs_p": "p.Arg585Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001303256.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"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": "C",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "R",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 2640,
"cds_end": null,
"cds_length": 3099,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001303256.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1753_1755delCGCinsTGT",
"hgvs_p": "p.Arg585Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397641.8",
"protein_coding": true,
"protein_id": "NP_001290185.1",
"strand": false,
"transcript": "NM_001303256.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "R",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 2640,
"cds_end": null,
"cds_length": 3099,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397641.8",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1753_1755delCGCinsTGT",
"hgvs_p": "p.Arg585Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001303256.3",
"protein_coding": true,
"protein_id": "ENSP00000380763.2",
"strand": false,
"transcript": "ENST00000397641.8",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 970,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4469,
"cdna_start": 2933,
"cds_end": null,
"cds_length": 2913,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000215862.8",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1567_1569delCGCinsTGT",
"hgvs_p": "p.Arg523Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000215862.4",
"strand": false,
"transcript": "ENST00000215862.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "R",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 2873,
"cds_end": null,
"cds_length": 3105,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924805.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1753_1755delCGCinsTGT",
"hgvs_p": "p.Arg585Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594864.1",
"strand": false,
"transcript": "ENST00000924805.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1031,
"aa_ref": "R",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4467,
"cdna_start": 2936,
"cds_end": null,
"cds_length": 3096,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924802.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1753_1755delCGCinsTGT",
"hgvs_p": "p.Arg585Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594861.1",
"strand": false,
"transcript": "ENST00000924802.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 2919,
"cds_end": null,
"cds_length": 3093,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959363.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1747_1749delCGCinsTGT",
"hgvs_p": "p.Arg583Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629422.1",
"strand": false,
"transcript": "ENST00000959363.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "R",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 3090,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001303257.2",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1753_1755delCGCinsTGT",
"hgvs_p": "p.Arg585Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290186.1",
"strand": false,
"transcript": "NM_001303257.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "R",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4394,
"cdna_start": 2915,
"cds_end": null,
"cds_length": 3057,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924803.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1768_1770delCGCinsTGT",
"hgvs_p": "p.Arg590Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594862.1",
"strand": false,
"transcript": "ENST00000924803.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 2896,
"cds_end": null,
"cds_length": 3042,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924804.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1753_1755delCGCinsTGT",
"hgvs_p": "p.Arg585Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594863.1",
"strand": false,
"transcript": "ENST00000924804.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "R",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4394,
"cdna_start": 2858,
"cds_end": null,
"cds_length": 3009,
"cds_start": 1663,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852352.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1663_1665delCGCinsTGT",
"hgvs_p": "p.Arg555Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522411.1",
"strand": false,
"transcript": "ENST00000852352.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 990,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 2800,
"cds_end": null,
"cds_length": 2973,
"cds_start": 1627,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924801.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1627_1629delCGCinsTGT",
"hgvs_p": "p.Arg543Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594860.1",
"strand": false,
"transcript": "ENST00000924801.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 970,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6036,
"cdna_start": 3019,
"cds_end": null,
"cds_length": 2913,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014941.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1567_1569delCGCinsTGT",
"hgvs_p": "p.Arg523Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055756.1",
"strand": false,
"transcript": "NM_014941.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "R",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5672,
"cdna_start": 2655,
"cds_end": null,
"cds_length": 3114,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530004.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1768_1770delCGCinsTGT",
"hgvs_p": "p.Arg590Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528306.1",
"strand": false,
"transcript": "XM_011530004.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "R",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 2655,
"cds_end": null,
"cds_length": 3105,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017028667.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1768_1770delCGCinsTGT",
"hgvs_p": "p.Arg590Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884156.1",
"strand": false,
"transcript": "XM_017028667.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 970,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5767,
"cdna_start": 2750,
"cds_end": null,
"cds_length": 2913,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441203.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1567_1569delCGCinsTGT",
"hgvs_p": "p.Arg523Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297159.1",
"strand": false,
"transcript": "XM_047441203.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 970,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5926,
"cdna_start": 2909,
"cds_end": null,
"cds_length": 2913,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441204.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.1567_1569delCGCinsTGT",
"hgvs_p": "p.Arg523Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297160.1",
"strand": false,
"transcript": "XM_047441204.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4711,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674576.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.3199_3201delCGCinsTGT",
"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": "ENST00000674576.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675317.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.174_176delCGCinsTGT",
"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": "ENST00000675317.1",
"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": 3107,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675601.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.1595_1597delCGCinsTGT",
"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": "ENST00000675601.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000676215.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.2596_2598delCGCinsTGT",
"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": "ENST00000676215.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676263.1",
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