← Back to variant description
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: 10-63189430-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=63189430&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 63189430,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000399262.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.6308G>A",
"hgvs_p": "p.Arg2103Gln",
"transcript": "NM_032776.3",
"protein_id": "NP_116165.1",
"transcript_support_level": null,
"aa_start": 2103,
"aa_end": null,
"aa_length": 2540,
"cds_start": 6308,
"cds_end": null,
"cds_length": 7623,
"cdna_start": 6623,
"cdna_end": null,
"cdna_length": 8758,
"mane_select": "ENST00000399262.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.6308G>A",
"hgvs_p": "p.Arg2103Gln",
"transcript": "ENST00000399262.7",
"protein_id": "ENSP00000382204.2",
"transcript_support_level": 5,
"aa_start": 2103,
"aa_end": null,
"aa_length": 2540,
"cds_start": 6308,
"cds_end": null,
"cds_length": 7623,
"cdna_start": 6623,
"cdna_end": null,
"cdna_length": 8758,
"mane_select": "NM_032776.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5762G>A",
"hgvs_p": "p.Arg1921Gln",
"transcript": "ENST00000542921.5",
"protein_id": "ENSP00000444682.1",
"transcript_support_level": 1,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5762,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6379,
"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": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.6024G>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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.6194G>A",
"hgvs_p": "p.Arg2065Gln",
"transcript": "NM_001322252.2",
"protein_id": "NP_001309181.1",
"transcript_support_level": null,
"aa_start": 2065,
"aa_end": null,
"aa_length": 2502,
"cds_start": 6194,
"cds_end": null,
"cds_length": 7509,
"cdna_start": 6509,
"cdna_end": null,
"cdna_length": 8644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5762G>A",
"hgvs_p": "p.Arg1921Gln",
"transcript": "NM_001282948.2",
"protein_id": "NP_001269877.1",
"transcript_support_level": null,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5762,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6556,
"cdna_end": null,
"cdna_length": 8691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5762G>A",
"hgvs_p": "p.Arg1921Gln",
"transcript": "NM_001318154.2",
"protein_id": "NP_001305083.1",
"transcript_support_level": null,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5762,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6293,
"cdna_end": null,
"cdna_length": 8428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5651G>A",
"hgvs_p": "p.Arg1884Gln",
"transcript": "NM_001322254.2",
"protein_id": "NP_001309183.1",
"transcript_support_level": null,
"aa_start": 1884,
"aa_end": null,
"aa_length": 2321,
"cds_start": 5651,
"cds_end": null,
"cds_length": 6966,
"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 8585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5651G>A",
"hgvs_p": "p.Arg1884Gln",
"transcript": "NM_001322258.2",
"protein_id": "NP_001309187.1",
"transcript_support_level": null,
"aa_start": 1884,
"aa_end": null,
"aa_length": 2321,
"cds_start": 5651,
"cds_end": null,
"cds_length": 6966,
"cdna_start": 6187,
"cdna_end": null,
"cdna_length": 8322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5444G>A",
"hgvs_p": "p.Arg1815Gln",
"transcript": "NM_001318153.2",
"protein_id": "NP_001305082.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 2252,
"cds_start": 5444,
"cds_end": null,
"cds_length": 6759,
"cdna_start": 6560,
"cdna_end": null,
"cdna_length": 8695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1946G>A",
"hgvs_p": "p.Arg649Gln",
"transcript": "ENST00000327520.7",
"protein_id": "ENSP00000335929.5",
"transcript_support_level": 2,
"aa_start": 649,
"aa_end": null,
"aa_length": 955,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.6146G>A",
"hgvs_p": "p.Arg2049Gln",
"transcript": "XM_047424774.1",
"protein_id": "XP_047280730.1",
"transcript_support_level": null,
"aa_start": 2049,
"aa_end": null,
"aa_length": 2486,
"cds_start": 6146,
"cds_end": null,
"cds_length": 7461,
"cdna_start": 9994,
"cdna_end": null,
"cdna_length": 12129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5762G>A",
"hgvs_p": "p.Arg1921Gln",
"transcript": "XM_017015897.2",
"protein_id": "XP_016871386.1",
"transcript_support_level": null,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5762,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6179,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5762G>A",
"hgvs_p": "p.Arg1921Gln",
"transcript": "XM_017015898.2",
"protein_id": "XP_016871387.1",
"transcript_support_level": null,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5762,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 19608,
"cdna_end": null,
"cdna_length": 21743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5762G>A",
"hgvs_p": "p.Arg1921Gln",
"transcript": "XM_047424772.1",
"protein_id": "XP_047280728.1",
"transcript_support_level": null,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5762,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6359,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5762G>A",
"hgvs_p": "p.Arg1921Gln",
"transcript": "XM_047424773.1",
"protein_id": "XP_047280729.1",
"transcript_support_level": null,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5762,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6245,
"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": 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.632G>A",
"hgvs_p": null,
"transcript": "ENST00000497922.1",
"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,
"cdna_end": null,
"cdna_length": 775,
"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": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.6080G>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": "rs927398945",
"frequency_reference_population": 0.000011170688,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000479681,
"gnomad_genomes_af": 0.0000723408,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4616352319717407,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.181,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.89,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000399262.7",
"gene_symbol": "JMJD1C",
"hgnc_id": 12313,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6308G>A",
"hgvs_p": "p.Arg2103Gln"
}
],
"clinvar_disease": "Early myoclonic encephalopathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Early myoclonic encephalopathy|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}