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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: 22-30941545-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30941545&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PM1",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MORC2",
"hgnc_id": 23573,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -7,
"transcript": "NM_001303256.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP6,BS1,BS2",
"acmg_score": -7,
"allele_count_reference_population": 181,
"alphamissense_prediction": null,
"alphamissense_score": 0.0803,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"chr": "22",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2Z,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.44530338048934937,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 3099,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001303256.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"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": 238,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 3099,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000397641.8",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"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": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4469,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 2913,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000215862.8",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"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": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 3105,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924805.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"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": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4467,
"cdna_start": 1893,
"cds_end": null,
"cds_length": 3096,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924802.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"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": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 3093,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000959363.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Cys",
"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": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 3090,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001303257.2",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"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": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4394,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 3057,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924803.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"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": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 3042,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924804.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"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": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4394,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 3009,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852352.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"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": 970,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6036,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2913,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014941.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"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": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5672,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 3114,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011530004.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"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": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 3105,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017028667.3",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"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": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5767,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 2913,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047441203.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"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": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5926,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 2913,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047441204.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"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": 990,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": null,
"cds_end": null,
"cds_length": 2973,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924801.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "c.698+346C>T",
"hgvs_p": null,
"intron_rank": 8,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 595,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000469915.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.266C>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": "ENST00000469915.1",
"transcript_support_level": 3
},
{
"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": 5,
"exon_rank_end": null,
"feature": "ENST00000675601.1",
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"hgvs_c": "n.554C>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": "ENST00000675601.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs371713427",
"effect": "missense_variant",
"frequency_reference_population": 0.000112196714,
"gene_hgnc_id": 23573,
"gene_symbol": "MORC2",
"gnomad_exomes_ac": 168,
"gnomad_exomes_af": 0.000114988,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 13,
"gnomad_genomes_af": 0.000085405,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2Z|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.104,
"pos": 30941545,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.493,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001303256.3"
}
]
}