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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: 10-63189211-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=63189211&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "JMJD1C",
"hgnc_id": 12313,
"hgvs_c": "c.6527G>A",
"hgvs_p": "p.Ser2176Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_032776.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0687,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Early myoclonic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03122672438621521,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2540,
"aa_ref": "S",
"aa_start": 2176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8758,
"cdna_start": 6842,
"cds_end": null,
"cds_length": 7623,
"cds_start": 6527,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_032776.3",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.6527G>A",
"hgvs_p": "p.Ser2176Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399262.7",
"protein_coding": true,
"protein_id": "NP_116165.1",
"strand": false,
"transcript": "NM_032776.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2540,
"aa_ref": "S",
"aa_start": 2176,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8758,
"cdna_start": 6842,
"cds_end": null,
"cds_length": 7623,
"cds_start": 6527,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000399262.7",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.6527G>A",
"hgvs_p": "p.Ser2176Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032776.3",
"protein_coding": true,
"protein_id": "ENSP00000382204.2",
"strand": false,
"transcript": "ENST00000399262.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 1994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8149,
"cdna_start": 6598,
"cds_end": null,
"cds_length": 7077,
"cds_start": 5981,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000542921.5",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Ser1994Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444682.1",
"strand": false,
"transcript": "ENST00000542921.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8011,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000402544.5",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "n.6243G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000402544.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2502,
"aa_ref": "S",
"aa_start": 2138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8644,
"cdna_start": 6728,
"cds_end": null,
"cds_length": 7509,
"cds_start": 6413,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001322252.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.6413G>A",
"hgvs_p": "p.Ser2138Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309181.1",
"strand": false,
"transcript": "NM_001322252.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 1994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8691,
"cdna_start": 6775,
"cds_end": null,
"cds_length": 7077,
"cds_start": 5981,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001282948.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Ser1994Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269877.1",
"strand": false,
"transcript": "NM_001282948.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 1994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8428,
"cdna_start": 6512,
"cds_end": null,
"cds_length": 7077,
"cds_start": 5981,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001318154.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Ser1994Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305083.1",
"strand": false,
"transcript": "NM_001318154.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2321,
"aa_ref": "S",
"aa_start": 1957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8585,
"cdna_start": 6669,
"cds_end": null,
"cds_length": 6966,
"cds_start": 5870,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001322254.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5870G>A",
"hgvs_p": "p.Ser1957Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309183.1",
"strand": false,
"transcript": "NM_001322254.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2321,
"aa_ref": "S",
"aa_start": 1957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8322,
"cdna_start": 6406,
"cds_end": null,
"cds_length": 6966,
"cds_start": 5870,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001322258.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5870G>A",
"hgvs_p": "p.Ser1957Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309187.1",
"strand": false,
"transcript": "NM_001322258.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2252,
"aa_ref": "S",
"aa_start": 1888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8695,
"cdna_start": 6779,
"cds_end": null,
"cds_length": 6759,
"cds_start": 5663,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001318153.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5663G>A",
"hgvs_p": "p.Ser1888Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305082.1",
"strand": false,
"transcript": "NM_001318153.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 955,
"aa_ref": "S",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 2167,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000327520.7",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2165G>A",
"hgvs_p": "p.Ser722Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335929.5",
"strand": false,
"transcript": "ENST00000327520.7",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2486,
"aa_ref": "S",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12129,
"cdna_start": 10213,
"cds_end": null,
"cds_length": 7461,
"cds_start": 6365,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047424774.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.6365G>A",
"hgvs_p": "p.Ser2122Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280730.1",
"strand": false,
"transcript": "XM_047424774.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 1994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8314,
"cdna_start": 6398,
"cds_end": null,
"cds_length": 7077,
"cds_start": 5981,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017015897.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Ser1994Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871386.1",
"strand": false,
"transcript": "XM_017015897.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 1994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21743,
"cdna_start": 19827,
"cds_end": null,
"cds_length": 7077,
"cds_start": 5981,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017015898.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Ser1994Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871387.1",
"strand": false,
"transcript": "XM_017015898.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 1994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8494,
"cdna_start": 6578,
"cds_end": null,
"cds_length": 7077,
"cds_start": 5981,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047424772.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Ser1994Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280728.1",
"strand": false,
"transcript": "XM_047424772.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 1994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8380,
"cdna_start": 6464,
"cds_end": null,
"cds_length": 7077,
"cds_start": 5981,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047424773.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Ser1994Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280729.1",
"strand": false,
"transcript": "XM_047424773.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8190,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_134512.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "n.6299G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_134512.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 775,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000497922.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "n.*76G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497922.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1554829957",
"effect": "missense_variant",
"frequency_reference_population": 0.000002054727,
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205473,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Early myoclonic encephalopathy",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.184,
"pos": 63189211,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.037,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_032776.3"
}
]
}