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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: 10-63168077-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=63168077&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 63168077,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000399262.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7591G>A",
"hgvs_p": "p.Glu2531Lys",
"transcript": "NM_032776.3",
"protein_id": "NP_116165.1",
"transcript_support_level": null,
"aa_start": 2531,
"aa_end": null,
"aa_length": 2540,
"cds_start": 7591,
"cds_end": null,
"cds_length": 7623,
"cdna_start": 7906,
"cdna_end": null,
"cdna_length": 8758,
"mane_select": "ENST00000399262.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7591G>A",
"hgvs_p": "p.Glu2531Lys",
"transcript": "ENST00000399262.7",
"protein_id": "ENSP00000382204.2",
"transcript_support_level": 5,
"aa_start": 2531,
"aa_end": null,
"aa_length": 2540,
"cds_start": 7591,
"cds_end": null,
"cds_length": 7623,
"cdna_start": 7906,
"cdna_end": null,
"cdna_length": 8758,
"mane_select": "NM_032776.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7045G>A",
"hgvs_p": "p.Glu2349Lys",
"transcript": "ENST00000542921.5",
"protein_id": "ENSP00000444682.1",
"transcript_support_level": 1,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2358,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 7662,
"cdna_end": null,
"cdna_length": 8149,
"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": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.7282G>A",
"hgvs_p": null,
"transcript": "ENST00000402544.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 8011,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.449G>A",
"hgvs_p": null,
"transcript": "ENST00000467356.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7477G>A",
"hgvs_p": "p.Glu2493Lys",
"transcript": "NM_001322252.2",
"protein_id": "NP_001309181.1",
"transcript_support_level": null,
"aa_start": 2493,
"aa_end": null,
"aa_length": 2502,
"cds_start": 7477,
"cds_end": null,
"cds_length": 7509,
"cdna_start": 7792,
"cdna_end": null,
"cdna_length": 8644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7045G>A",
"hgvs_p": "p.Glu2349Lys",
"transcript": "NM_001282948.2",
"protein_id": "NP_001269877.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2358,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 7839,
"cdna_end": null,
"cdna_length": 8691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7045G>A",
"hgvs_p": "p.Glu2349Lys",
"transcript": "NM_001318154.2",
"protein_id": "NP_001305083.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2358,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 7576,
"cdna_end": null,
"cdna_length": 8428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.6934G>A",
"hgvs_p": "p.Glu2312Lys",
"transcript": "NM_001322254.2",
"protein_id": "NP_001309183.1",
"transcript_support_level": null,
"aa_start": 2312,
"aa_end": null,
"aa_length": 2321,
"cds_start": 6934,
"cds_end": null,
"cds_length": 6966,
"cdna_start": 7733,
"cdna_end": null,
"cdna_length": 8585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.6934G>A",
"hgvs_p": "p.Glu2312Lys",
"transcript": "NM_001322258.2",
"protein_id": "NP_001309187.1",
"transcript_support_level": null,
"aa_start": 2312,
"aa_end": null,
"aa_length": 2321,
"cds_start": 6934,
"cds_end": null,
"cds_length": 6966,
"cdna_start": 7470,
"cdna_end": null,
"cdna_length": 8322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.6727G>A",
"hgvs_p": "p.Glu2243Lys",
"transcript": "NM_001318153.2",
"protein_id": "NP_001305082.1",
"transcript_support_level": null,
"aa_start": 2243,
"aa_end": null,
"aa_length": 2252,
"cds_start": 6727,
"cds_end": null,
"cds_length": 6759,
"cdna_start": 7843,
"cdna_end": null,
"cdna_length": 8695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7429G>A",
"hgvs_p": "p.Glu2477Lys",
"transcript": "XM_047424774.1",
"protein_id": "XP_047280730.1",
"transcript_support_level": null,
"aa_start": 2477,
"aa_end": null,
"aa_length": 2486,
"cds_start": 7429,
"cds_end": null,
"cds_length": 7461,
"cdna_start": 11277,
"cdna_end": null,
"cdna_length": 12129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7045G>A",
"hgvs_p": "p.Glu2349Lys",
"transcript": "XM_017015897.2",
"protein_id": "XP_016871386.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2358,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 7462,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7045G>A",
"hgvs_p": "p.Glu2349Lys",
"transcript": "XM_017015898.2",
"protein_id": "XP_016871387.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2358,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 20891,
"cdna_end": null,
"cdna_length": 21743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7045G>A",
"hgvs_p": "p.Glu2349Lys",
"transcript": "XM_047424772.1",
"protein_id": "XP_047280728.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2358,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 7642,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.7045G>A",
"hgvs_p": "p.Glu2349Lys",
"transcript": "XM_047424773.1",
"protein_id": "XP_047280729.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2358,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 7528,
"cdna_end": null,
"cdna_length": 8380,
"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": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.7338G>A",
"hgvs_p": null,
"transcript": "NR_134512.2",
"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": 8190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"dbsnp": "rs71508957",
"frequency_reference_population": 0.006957347,
"hom_count_reference_population": 61,
"allele_count_reference_population": 11159,
"gnomad_exomes_af": 0.0071951,
"gnomad_genomes_af": 0.00469015,
"gnomad_exomes_ac": 10445,
"gnomad_genomes_ac": 714,
"gnomad_exomes_homalt": 55,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004607468843460083,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.1406,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.64,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000399262.7",
"gene_symbol": "JMJD1C",
"hgnc_id": 12313,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7591G>A",
"hgvs_p": "p.Glu2531Lys"
}
],
"clinvar_disease": "Early myoclonic encephalopathy,JMJD1C-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Early myoclonic encephalopathy|JMJD1C-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}