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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: 10-63193021-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=63193021&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 63193021,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000399262.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5993A>C",
"hgvs_p": "p.Asn1998Thr",
"transcript": "NM_032776.3",
"protein_id": "NP_116165.1",
"transcript_support_level": null,
"aa_start": 1998,
"aa_end": null,
"aa_length": 2540,
"cds_start": 5993,
"cds_end": null,
"cds_length": 7623,
"cdna_start": 6308,
"cdna_end": null,
"cdna_length": 8758,
"mane_select": "ENST00000399262.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5993A>C",
"hgvs_p": "p.Asn1998Thr",
"transcript": "ENST00000399262.7",
"protein_id": "ENSP00000382204.2",
"transcript_support_level": 5,
"aa_start": 1998,
"aa_end": null,
"aa_length": 2540,
"cds_start": 5993,
"cds_end": null,
"cds_length": 7623,
"cdna_start": 6308,
"cdna_end": null,
"cdna_length": 8758,
"mane_select": "NM_032776.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5447A>C",
"hgvs_p": "p.Asn1816Thr",
"transcript": "ENST00000542921.5",
"protein_id": "ENSP00000444682.1",
"transcript_support_level": 1,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5447,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6064,
"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": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.5709A>C",
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5879A>C",
"hgvs_p": "p.Asn1960Thr",
"transcript": "NM_001322252.2",
"protein_id": "NP_001309181.1",
"transcript_support_level": null,
"aa_start": 1960,
"aa_end": null,
"aa_length": 2502,
"cds_start": 5879,
"cds_end": null,
"cds_length": 7509,
"cdna_start": 6194,
"cdna_end": null,
"cdna_length": 8644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5447A>C",
"hgvs_p": "p.Asn1816Thr",
"transcript": "NM_001282948.2",
"protein_id": "NP_001269877.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5447,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6241,
"cdna_end": null,
"cdna_length": 8691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5447A>C",
"hgvs_p": "p.Asn1816Thr",
"transcript": "NM_001318154.2",
"protein_id": "NP_001305083.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5447,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 5978,
"cdna_end": null,
"cdna_length": 8428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5336A>C",
"hgvs_p": "p.Asn1779Thr",
"transcript": "NM_001322254.2",
"protein_id": "NP_001309183.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 2321,
"cds_start": 5336,
"cds_end": null,
"cds_length": 6966,
"cdna_start": 6135,
"cdna_end": null,
"cdna_length": 8585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5336A>C",
"hgvs_p": "p.Asn1779Thr",
"transcript": "NM_001322258.2",
"protein_id": "NP_001309187.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 2321,
"cds_start": 5336,
"cds_end": null,
"cds_length": 6966,
"cdna_start": 5872,
"cdna_end": null,
"cdna_length": 8322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5129A>C",
"hgvs_p": "p.Asn1710Thr",
"transcript": "NM_001318153.2",
"protein_id": "NP_001305082.1",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 2252,
"cds_start": 5129,
"cds_end": null,
"cds_length": 6759,
"cdna_start": 6245,
"cdna_end": null,
"cdna_length": 8695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.1631A>C",
"hgvs_p": "p.Asn544Thr",
"transcript": "ENST00000327520.7",
"protein_id": "ENSP00000335929.5",
"transcript_support_level": 2,
"aa_start": 544,
"aa_end": null,
"aa_length": 955,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5831A>C",
"hgvs_p": "p.Asn1944Thr",
"transcript": "XM_047424774.1",
"protein_id": "XP_047280730.1",
"transcript_support_level": null,
"aa_start": 1944,
"aa_end": null,
"aa_length": 2486,
"cds_start": 5831,
"cds_end": null,
"cds_length": 7461,
"cdna_start": 9679,
"cdna_end": null,
"cdna_length": 12129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5447A>C",
"hgvs_p": "p.Asn1816Thr",
"transcript": "XM_017015897.2",
"protein_id": "XP_016871386.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5447,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 5864,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5447A>C",
"hgvs_p": "p.Asn1816Thr",
"transcript": "XM_017015898.2",
"protein_id": "XP_016871387.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5447,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 19293,
"cdna_end": null,
"cdna_length": 21743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5447A>C",
"hgvs_p": "p.Asn1816Thr",
"transcript": "XM_047424772.1",
"protein_id": "XP_047280728.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5447,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6044,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5447A>C",
"hgvs_p": "p.Asn1816Thr",
"transcript": "XM_047424773.1",
"protein_id": "XP_047280729.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5447,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 5930,
"cdna_end": null,
"cdna_length": 8380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "c.5447A>C",
"hgvs_p": "p.Asn1816Thr",
"transcript": "XM_047424775.1",
"protein_id": "XP_047280731.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 1850,
"cds_start": 5447,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 6044,
"cdna_end": null,
"cdna_length": 6163,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.436A>C",
"hgvs_p": null,
"transcript": "ENST00000490669.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 518,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.317A>C",
"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": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.5765A>C",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"hgvs_c": "n.*89A>C",
"hgvs_p": null,
"transcript": "ENST00000483298.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JMJD1C",
"gene_hgnc_id": 12313,
"dbsnp": "rs550649881",
"frequency_reference_population": 0.0000625714,
"hom_count_reference_population": 0,
"allele_count_reference_population": 101,
"gnomad_exomes_af": 0.0000670388,
"gnomad_genomes_af": 0.0000196959,
"gnomad_exomes_ac": 98,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016575247049331665,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.0557,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.749,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000399262.7",
"gene_symbol": "JMJD1C",
"hgnc_id": 12313,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5993A>C",
"hgvs_p": "p.Asn1998Thr"
}
],
"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
}