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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: 10-63207500-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=63207500&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "JMJD1C",
"hgnc_id": 12313,
"hgvs_c": "c.4169C>T",
"hgvs_p": "p.Thr1390Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_032776.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.0799,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"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": 0.04042312502861023,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2540,
"aa_ref": "T",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8758,
"cdna_start": 4484,
"cds_end": null,
"cds_length": 7623,
"cds_start": 4169,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_032776.3",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.4169C>T",
"hgvs_p": "p.Thr1390Met",
"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": "M",
"aa_end": null,
"aa_length": 2540,
"aa_ref": "T",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8758,
"cdna_start": 4484,
"cds_end": null,
"cds_length": 7623,
"cds_start": 4169,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000399262.7",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.4169C>T",
"hgvs_p": "p.Thr1390Met",
"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": "M",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8149,
"cdna_start": 4240,
"cds_end": null,
"cds_length": 7077,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000542921.5",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"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": 7,
"exon_rank_end": null,
"feature": "ENST00000402544.5",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "n.4141C>T",
"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": "M",
"aa_end": null,
"aa_length": 2502,
"aa_ref": "T",
"aa_start": 1352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8644,
"cdna_start": 4370,
"cds_end": null,
"cds_length": 7509,
"cds_start": 4055,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001322252.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.4055C>T",
"hgvs_p": "p.Thr1352Met",
"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": "M",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8691,
"cdna_start": 4417,
"cds_end": null,
"cds_length": 7077,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001282948.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"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": "M",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8428,
"cdna_start": 4154,
"cds_end": null,
"cds_length": 7077,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001318154.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"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": "M",
"aa_end": null,
"aa_length": 2321,
"aa_ref": "T",
"aa_start": 1171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8585,
"cdna_start": 4311,
"cds_end": null,
"cds_length": 6966,
"cds_start": 3512,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001322254.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3512C>T",
"hgvs_p": "p.Thr1171Met",
"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": "M",
"aa_end": null,
"aa_length": 2321,
"aa_ref": "T",
"aa_start": 1171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8322,
"cdna_start": 4048,
"cds_end": null,
"cds_length": 6966,
"cds_start": 3512,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001322258.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3512C>T",
"hgvs_p": "p.Thr1171Met",
"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": "M",
"aa_end": null,
"aa_length": 2252,
"aa_ref": "T",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8695,
"cdna_start": 4421,
"cds_end": null,
"cds_length": 6759,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001318153.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3305C>T",
"hgvs_p": "p.Thr1102Met",
"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": "M",
"aa_end": null,
"aa_length": 955,
"aa_ref": "T",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 226,
"cds_end": null,
"cds_length": 2868,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000327520.7",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Thr75Met",
"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": "M",
"aa_end": null,
"aa_length": 2486,
"aa_ref": "T",
"aa_start": 1336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12129,
"cdna_start": 7855,
"cds_end": null,
"cds_length": 7461,
"cds_start": 4007,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047424774.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.4007C>T",
"hgvs_p": "p.Thr1336Met",
"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": "M",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8314,
"cdna_start": 4040,
"cds_end": null,
"cds_length": 7077,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017015897.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"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": "M",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21743,
"cdna_start": 17469,
"cds_end": null,
"cds_length": 7077,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017015898.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"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": "M",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8494,
"cdna_start": 4220,
"cds_end": null,
"cds_length": 7077,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424772.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"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": "M",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8380,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 7077,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047424773.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"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": "M",
"aa_end": null,
"aa_length": 1850,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6163,
"cdna_start": 4220,
"cds_end": null,
"cds_length": 5553,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424775.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280731.1",
"strand": false,
"transcript": "XM_047424775.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "T",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7323,
"cdna_start": 4220,
"cds_end": null,
"cds_length": 4557,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011539508.3",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Thr1208Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537810.1",
"strand": false,
"transcript": "XM_011539508.3",
"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": 7,
"exon_rank_end": null,
"feature": "NR_134512.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "n.4197C>T",
"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
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs747375729",
"effect": "missense_variant",
"frequency_reference_population": 0.0000055760283,
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"gnomad_exomes_ac": 8,
"gnomad_exomes_af": 0.0000054725,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657039,
"gnomad_genomes_homalt": 0,
"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": 0.997,
"pos": 63207500,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.033,
"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"
}
]
}