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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: 22-30941550-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30941550&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30941550,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001303256.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly",
"transcript": "NM_001303256.3",
"protein_id": "NP_001290185.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1032,
"cds_start": 707,
"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": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly",
"transcript": "ENST00000397641.8",
"protein_id": "ENSP00000380763.2",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 1032,
"cds_start": 707,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "ENST00000215862.8",
"protein_id": "ENSP00000215862.4",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 970,
"cds_start": 521,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly",
"transcript": "ENST00000924805.1",
"protein_id": "ENSP00000594864.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1034,
"cds_start": 707,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly",
"transcript": "ENST00000924802.1",
"protein_id": "ENSP00000594861.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1031,
"cds_start": 707,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.701A>G",
"hgvs_p": "p.Glu234Gly",
"transcript": "ENST00000959363.1",
"protein_id": "ENSP00000629422.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 1030,
"cds_start": 701,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly",
"transcript": "NM_001303257.2",
"protein_id": "NP_001290186.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1029,
"cds_start": 707,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Glu241Gly",
"transcript": "ENST00000924803.1",
"protein_id": "ENSP00000594862.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1018,
"cds_start": 722,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly",
"transcript": "ENST00000924804.1",
"protein_id": "ENSP00000594863.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1013,
"cds_start": 707,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly",
"transcript": "ENST00000852352.1",
"protein_id": "ENSP00000522411.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1002,
"cds_start": 707,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "NM_014941.3",
"protein_id": "NP_055756.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 970,
"cds_start": 521,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Glu241Gly",
"transcript": "XM_011530004.3",
"protein_id": "XP_011528306.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1037,
"cds_start": 722,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Glu241Gly",
"transcript": "XM_017028667.3",
"protein_id": "XP_016884156.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1034,
"cds_start": 722,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "XM_047441203.1",
"protein_id": "XP_047297159.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 970,
"cds_start": 521,
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "XM_047441204.1",
"protein_id": "XP_047297160.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 970,
"cds_start": 521,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.698+341A>G",
"hgvs_p": null,
"transcript": "ENST00000924801.1",
"protein_id": "ENSP00000594860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 990,
"cds_start": null,
"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": 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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.261A>G",
"hgvs_p": null,
"transcript": "ENST00000469915.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000469915.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.549A>G",
"hgvs_p": null,
"transcript": "ENST00000675601.1",
"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": "pseudogene",
"feature": "ENST00000675601.1"
}
],
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"dbsnp": "rs886037934",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8230719566345215,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.523,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9406,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.67,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001303256.3",
"gene_symbol": "MORC2",
"hgnc_id": 23573,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2Z",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2Z|Charcot-Marie-Tooth disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}