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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: 22-30932643-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30932643&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MORC2",
"hgnc_id": 23573,
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Val883Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001303256.3",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MORC2-AS1",
"hgnc_id": 26662,
"hgvs_c": "n.*194G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000441558.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 417,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "22",
"clinvar_classification": "Benign",
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2Z",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04600000008940697,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 3534,
"cds_end": null,
"cds_length": 3099,
"cds_start": 2649,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001303256.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Val883Val",
"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": "V",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 3534,
"cds_end": null,
"cds_length": 3099,
"cds_start": 2649,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000397641.8",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Val883Val",
"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": "V",
"aa_end": null,
"aa_length": 970,
"aa_ref": "V",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4469,
"cdna_start": 3827,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2463,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000215862.8",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2463C>T",
"hgvs_p": "p.Val821Val",
"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": "V",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 3767,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2649,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000924805.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Val883Val",
"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": "V",
"aa_end": null,
"aa_length": 1031,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4467,
"cdna_start": 3830,
"cds_end": null,
"cds_length": 3096,
"cds_start": 2649,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000924802.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Val883Val",
"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": "V",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "V",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 3813,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2643,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000959363.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2643C>T",
"hgvs_p": "p.Val881Val",
"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": "V",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 3047,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2649,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001303257.2",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Val883Val",
"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": "V",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "V",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4394,
"cdna_start": 3809,
"cds_end": null,
"cds_length": 3057,
"cds_start": 2664,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000924803.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2664C>T",
"hgvs_p": "p.Val888Val",
"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": "V",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 3790,
"cds_end": null,
"cds_length": 3042,
"cds_start": 2649,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000924804.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Val883Val",
"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": "V",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "V",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4394,
"cdna_start": 3752,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2559,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000852352.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2559C>T",
"hgvs_p": "p.Val853Val",
"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": "V",
"aa_end": null,
"aa_length": 990,
"aa_ref": "V",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 3694,
"cds_end": null,
"cds_length": 2973,
"cds_start": 2523,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000924801.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2523C>T",
"hgvs_p": "p.Val841Val",
"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": "V",
"aa_end": null,
"aa_length": 970,
"aa_ref": "V",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6036,
"cdna_start": 3913,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2463,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_014941.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2463C>T",
"hgvs_p": "p.Val821Val",
"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": "V",
"aa_end": null,
"aa_length": 190,
"aa_ref": "V",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": 133,
"cds_end": null,
"cds_length": 573,
"cds_start": 132,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000445980.5",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Val44Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402602.1",
"strand": false,
"transcript": "ENST00000445980.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "V",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5672,
"cdna_start": 3549,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2664,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011530004.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2664C>T",
"hgvs_p": "p.Val888Val",
"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": "V",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "V",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 3549,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2664,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017028667.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2664C>T",
"hgvs_p": "p.Val888Val",
"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": "V",
"aa_end": null,
"aa_length": 970,
"aa_ref": "V",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5767,
"cdna_start": 3644,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2463,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047441203.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2463C>T",
"hgvs_p": "p.Val821Val",
"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": "V",
"aa_end": null,
"aa_length": 970,
"aa_ref": "V",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5926,
"cdna_start": 3803,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2463,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047441204.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.2463C>T",
"hgvs_p": "p.Val821Val",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000674576.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.4095C>T",
"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
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000674585.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.334C>T",
"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": "ENST00000674585.1",
"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": 1706,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000675027.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.39C>T",
"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": "ENST00000675027.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
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