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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: 22-30928105-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30928105&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30928105,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001303256.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2944A>G",
"hgvs_p": "p.Thr982Ala",
"transcript": "NM_001303256.3",
"protein_id": "NP_001290185.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2944,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397641.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303256.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2944A>G",
"hgvs_p": "p.Thr982Ala",
"transcript": "ENST00000397641.8",
"protein_id": "ENSP00000380763.2",
"transcript_support_level": 5,
"aa_start": 982,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2944,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001303256.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397641.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2758A>G",
"hgvs_p": "p.Thr920Ala",
"transcript": "ENST00000215862.8",
"protein_id": "ENSP00000215862.4",
"transcript_support_level": 1,
"aa_start": 920,
"aa_end": null,
"aa_length": 970,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215862.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2950A>G",
"hgvs_p": "p.Thr984Ala",
"transcript": "ENST00000924805.1",
"protein_id": "ENSP00000594864.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2950,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924805.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2941A>G",
"hgvs_p": "p.Thr981Ala",
"transcript": "ENST00000924802.1",
"protein_id": "ENSP00000594861.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2941,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924802.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2938A>G",
"hgvs_p": "p.Thr980Ala",
"transcript": "ENST00000959363.1",
"protein_id": "ENSP00000629422.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959363.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2944A>G",
"hgvs_p": "p.Thr982Ala",
"transcript": "NM_001303257.2",
"protein_id": "NP_001290186.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2944,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303257.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2902A>G",
"hgvs_p": "p.Thr968Ala",
"transcript": "ENST00000924803.1",
"protein_id": "ENSP00000594862.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924803.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2887A>G",
"hgvs_p": "p.Thr963Ala",
"transcript": "ENST00000924804.1",
"protein_id": "ENSP00000594863.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2887,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924804.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2854A>G",
"hgvs_p": "p.Thr952Ala",
"transcript": "ENST00000852352.1",
"protein_id": "ENSP00000522411.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852352.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2818A>G",
"hgvs_p": "p.Thr940Ala",
"transcript": "ENST00000924801.1",
"protein_id": "ENSP00000594860.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 990,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924801.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2758A>G",
"hgvs_p": "p.Thr920Ala",
"transcript": "NM_014941.3",
"protein_id": "NP_055756.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 970,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014941.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.427A>G",
"hgvs_p": "p.Thr143Ala",
"transcript": "ENST00000445980.5",
"protein_id": "ENSP00000402602.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 190,
"cds_start": 427,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445980.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2959A>G",
"hgvs_p": "p.Thr987Ala",
"transcript": "XM_011530004.3",
"protein_id": "XP_011528306.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2959,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530004.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2959A>G",
"hgvs_p": "p.Thr987Ala",
"transcript": "XM_017028667.3",
"protein_id": "XP_016884156.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2959,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028667.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2758A>G",
"hgvs_p": "p.Thr920Ala",
"transcript": "XM_047441203.1",
"protein_id": "XP_047297159.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 970,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441203.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2758A>G",
"hgvs_p": "p.Thr920Ala",
"transcript": "XM_047441204.1",
"protein_id": "XP_047297160.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 970,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.124A>G",
"hgvs_p": null,
"transcript": "ENST00000429468.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000429468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.4390A>G",
"hgvs_p": null,
"transcript": "ENST00000674576.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000674576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.629A>G",
"hgvs_p": null,
"transcript": "ENST00000674585.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000674585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.334A>G",
"hgvs_p": null,
"transcript": "ENST00000675027.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675027.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.1365A>G",
"hgvs_p": null,
"transcript": "ENST00000675317.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.64,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -12,
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"criteria": [
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"BS1",
"BS2"
],
"verdict": "Benign",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": -2,
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],
"verdict": "Likely_benign",
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],
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}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2Z",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2Z",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}