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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: 10-63213854-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=63213854&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 63213854,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_032776.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.2313A>G",
"hgvs_p": "p.Gln771Gln",
"transcript": "NM_032776.3",
"protein_id": "NP_116165.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 2540,
"cds_start": 2313,
"cds_end": null,
"cds_length": 7623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399262.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032776.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.2313A>G",
"hgvs_p": "p.Gln771Gln",
"transcript": "ENST00000399262.7",
"protein_id": "ENSP00000382204.2",
"transcript_support_level": 5,
"aa_start": 771,
"aa_end": null,
"aa_length": 2540,
"cds_start": 2313,
"cds_end": null,
"cds_length": 7623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032776.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399262.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "ENST00000542921.5",
"protein_id": "ENSP00000444682.1",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 2358,
"cds_start": 1767,
"cds_end": null,
"cds_length": 7077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542921.5"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.2285A>G",
"hgvs_p": null,
"transcript": "ENST00000402544.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000402544.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Gln733Gln",
"transcript": "NM_001322252.2",
"protein_id": "NP_001309181.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 2502,
"cds_start": 2199,
"cds_end": null,
"cds_length": 7509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322252.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "NM_001282948.2",
"protein_id": "NP_001269877.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 2358,
"cds_start": 1767,
"cds_end": null,
"cds_length": 7077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282948.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "NM_001318154.2",
"protein_id": "NP_001305083.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 2358,
"cds_start": 1767,
"cds_end": null,
"cds_length": 7077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318154.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Gln552Gln",
"transcript": "NM_001322254.2",
"protein_id": "NP_001309183.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 2321,
"cds_start": 1656,
"cds_end": null,
"cds_length": 6966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322254.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Gln552Gln",
"transcript": "NM_001322258.2",
"protein_id": "NP_001309187.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 2321,
"cds_start": 1656,
"cds_end": null,
"cds_length": 6966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322258.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1449A>G",
"hgvs_p": "p.Gln483Gln",
"transcript": "NM_001318153.2",
"protein_id": "NP_001305082.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 2252,
"cds_start": 1449,
"cds_end": null,
"cds_length": 6759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318153.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.2151A>G",
"hgvs_p": "p.Gln717Gln",
"transcript": "XM_047424774.1",
"protein_id": "XP_047280730.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 2486,
"cds_start": 2151,
"cds_end": null,
"cds_length": 7461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424774.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "XM_017015897.2",
"protein_id": "XP_016871386.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 2358,
"cds_start": 1767,
"cds_end": null,
"cds_length": 7077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015897.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "XM_017015898.2",
"protein_id": "XP_016871387.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 2358,
"cds_start": 1767,
"cds_end": null,
"cds_length": 7077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015898.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "XM_047424772.1",
"protein_id": "XP_047280728.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 2358,
"cds_start": 1767,
"cds_end": null,
"cds_length": 7077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424772.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "XM_047424773.1",
"protein_id": "XP_047280729.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 2358,
"cds_start": 1767,
"cds_end": null,
"cds_length": 7077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424773.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "XM_047424775.1",
"protein_id": "XP_047280731.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1850,
"cds_start": 1767,
"cds_end": null,
"cds_length": 5553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424775.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Gln589Gln",
"transcript": "XM_011539508.3",
"protein_id": "XP_011537810.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1518,
"cds_start": 1767,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539508.3"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.2341A>G",
"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": 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": "NR_134512.2"
}
],
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"dbsnp": "rs200925734",
"frequency_reference_population": 0.000045850924,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.000038993,
"gnomad_genomes_af": 0.000111749,
"gnomad_exomes_ac": 57,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.406,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032776.3",
"gene_symbol": "JMJD1C",
"hgnc_id": 12313,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2313A>G",
"hgvs_p": "p.Gln771Gln"
}
],
"clinvar_disease": "Early myoclonic encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Early myoclonic encephalopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}