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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: 22-30934066-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30934066&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30934066,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001303256.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2319G>A",
"hgvs_p": "p.Ser773Ser",
"transcript": "NM_001303256.3",
"protein_id": "NP_001290185.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2319,
"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": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2319G>A",
"hgvs_p": "p.Ser773Ser",
"transcript": "ENST00000397641.8",
"protein_id": "ENSP00000380763.2",
"transcript_support_level": 5,
"aa_start": 773,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2319,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2133G>A",
"hgvs_p": "p.Ser711Ser",
"transcript": "ENST00000215862.8",
"protein_id": "ENSP00000215862.4",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 970,
"cds_start": 2133,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2319G>A",
"hgvs_p": "p.Ser773Ser",
"transcript": "ENST00000924805.1",
"protein_id": "ENSP00000594864.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2319,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2319G>A",
"hgvs_p": "p.Ser773Ser",
"transcript": "ENST00000924802.1",
"protein_id": "ENSP00000594861.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2319,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2313G>A",
"hgvs_p": "p.Ser771Ser",
"transcript": "ENST00000959363.1",
"protein_id": "ENSP00000629422.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2313,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2319G>A",
"hgvs_p": "p.Ser773Ser",
"transcript": "NM_001303257.2",
"protein_id": "NP_001290186.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2319,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2334G>A",
"hgvs_p": "p.Ser778Ser",
"transcript": "ENST00000924803.1",
"protein_id": "ENSP00000594862.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2334,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2319G>A",
"hgvs_p": "p.Ser773Ser",
"transcript": "ENST00000924804.1",
"protein_id": "ENSP00000594863.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2319,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2229G>A",
"hgvs_p": "p.Ser743Ser",
"transcript": "ENST00000852352.1",
"protein_id": "ENSP00000522411.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2229,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2193G>A",
"hgvs_p": "p.Ser731Ser",
"transcript": "ENST00000924801.1",
"protein_id": "ENSP00000594860.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 990,
"cds_start": 2193,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2133G>A",
"hgvs_p": "p.Ser711Ser",
"transcript": "NM_014941.3",
"protein_id": "NP_055756.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 970,
"cds_start": 2133,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2334G>A",
"hgvs_p": "p.Ser778Ser",
"transcript": "XM_011530004.3",
"protein_id": "XP_011528306.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2334,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2334G>A",
"hgvs_p": "p.Ser778Ser",
"transcript": "XM_017028667.3",
"protein_id": "XP_016884156.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2334,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2133G>A",
"hgvs_p": "p.Ser711Ser",
"transcript": "XM_047441203.1",
"protein_id": "XP_047297159.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 970,
"cds_start": 2133,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2133G>A",
"hgvs_p": "p.Ser711Ser",
"transcript": "XM_047441204.1",
"protein_id": "XP_047297160.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 970,
"cds_start": 2133,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.3765G>A",
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.740G>A",
"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,
"biotype": "retained_intron",
"feature": "ENST00000675317.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.90G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.2161G>A",
"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"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.3162G>A",
"hgvs_p": null,
"transcript": "ENST00000676215.1",
"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": "ENST00000676215.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.564G>A",
"hgvs_p": null,
"transcript": "ENST00000676263.1",
"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": "ENST00000676263.1"
}
],
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"dbsnp": "rs377574758",
"frequency_reference_population": 0.00006505681,
"hom_count_reference_population": 0,
"allele_count_reference_population": 105,
"gnomad_exomes_af": 0.0000629339,
"gnomad_genomes_af": 0.0000854577,
"gnomad_exomes_ac": 92,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.544,
"phylop100way_prediction": "Benign",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001303256.3",
"gene_symbol": "MORC2",
"hgnc_id": 23573,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2319G>A",
"hgvs_p": "p.Ser773Ser"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2Z",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2Z",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}