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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: 22-30932594-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30932594&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30932594,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000397641.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Ala900Pro",
"transcript": "NM_001303256.3",
"protein_id": "NP_001290185.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2698,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 3583,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "ENST00000397641.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Ala900Pro",
"transcript": "ENST00000397641.8",
"protein_id": "ENSP00000380763.2",
"transcript_support_level": 5,
"aa_start": 900,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2698,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 3583,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "NM_001303256.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2512G>C",
"hgvs_p": "p.Ala838Pro",
"transcript": "ENST00000215862.8",
"protein_id": "ENSP00000215862.4",
"transcript_support_level": 1,
"aa_start": 838,
"aa_end": null,
"aa_length": 970,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3876,
"cdna_end": null,
"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Ala900Pro",
"transcript": "NM_001303257.2",
"protein_id": "NP_001290186.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2698,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 3096,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2512G>C",
"hgvs_p": "p.Ala838Pro",
"transcript": "NM_014941.3",
"protein_id": "NP_055756.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 970,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3962,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000445980.5",
"protein_id": "ENSP00000402602.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 190,
"cds_start": 181,
"cds_end": null,
"cds_length": 573,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2713G>C",
"hgvs_p": "p.Ala905Pro",
"transcript": "XM_011530004.3",
"protein_id": "XP_011528306.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3598,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2713G>C",
"hgvs_p": "p.Ala905Pro",
"transcript": "XM_017028667.3",
"protein_id": "XP_016884156.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 3598,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2512G>C",
"hgvs_p": "p.Ala838Pro",
"transcript": "XM_047441203.1",
"protein_id": "XP_047297159.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 970,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2512G>C",
"hgvs_p": "p.Ala838Pro",
"transcript": "XM_047441204.1",
"protein_id": "XP_047297160.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 970,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 5926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.4144G>C",
"hgvs_p": null,
"transcript": "ENST00000674576.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.383G>C",
"hgvs_p": null,
"transcript": "ENST00000674585.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.88G>C",
"hgvs_p": null,
"transcript": "ENST00000675027.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.1119G>C",
"hgvs_p": null,
"transcript": "ENST00000675317.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.330G>C",
"hgvs_p": null,
"transcript": "ENST00000675402.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.*451G>C",
"hgvs_p": null,
"transcript": "ENST00000675570.1",
"protein_id": "ENSP00000502691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.2540G>C",
"hgvs_p": null,
"transcript": "ENST00000675601.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.46G>C",
"hgvs_p": null,
"transcript": "ENST00000675779.1",
"protein_id": "ENSP00000502216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.450G>C",
"hgvs_p": null,
"transcript": "ENST00000675798.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.3541G>C",
"hgvs_p": null,
"transcript": "ENST00000676215.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.943G>C",
"hgvs_p": null,
"transcript": "ENST00000676263.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.*451G>C",
"hgvs_p": null,
"transcript": "ENST00000675570.1",
"protein_id": "ENSP00000502691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2-AS1",
"gene_hgnc_id": 26662,
"hgvs_c": "n.*145C>G",
"hgvs_p": null,
"transcript": "ENST00000441558.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"feature": null
}
],
"gene_symbol": "MORC2",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22030875086784363,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.541,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397641.8",
"gene_symbol": "MORC2",
"hgnc_id": 23573,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Ala900Pro"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441558.1",
"gene_symbol": "MORC2-AS1",
"hgnc_id": 26662,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*145C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}