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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: 10-63208420-TGA-GAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=63208420&ref=TGA&alt=GAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "JMJD1C",
"hgnc_id": 12313,
"hgvs_c": "c.3247_3249delTCAinsCTC",
"hgvs_p": "p.Ser1083Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032776.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2540,
"aa_ref": "S",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8758,
"cdna_start": 3564,
"cds_end": null,
"cds_length": 7623,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032776.3",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3247_3249delTCAinsCTC",
"hgvs_p": "p.Ser1083Leu",
"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": "L",
"aa_end": null,
"aa_length": 2540,
"aa_ref": "S",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8758,
"cdna_start": 3564,
"cds_end": null,
"cds_length": 7623,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000399262.7",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3247_3249delTCAinsCTC",
"hgvs_p": "p.Ser1083Leu",
"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": "L",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8149,
"cdna_start": 3320,
"cds_end": null,
"cds_length": 7077,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542921.5",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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.3219_3221delTCAinsCTC",
"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": "L",
"aa_end": null,
"aa_length": 2502,
"aa_ref": "S",
"aa_start": 1045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8644,
"cdna_start": 3450,
"cds_end": null,
"cds_length": 7509,
"cds_start": 3133,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322252.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3133_3135delTCAinsCTC",
"hgvs_p": "p.Ser1045Leu",
"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": "L",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8691,
"cdna_start": 3497,
"cds_end": null,
"cds_length": 7077,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282948.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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": "L",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8428,
"cdna_start": 3234,
"cds_end": null,
"cds_length": 7077,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318154.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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": "L",
"aa_end": null,
"aa_length": 2321,
"aa_ref": "S",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8585,
"cdna_start": 3391,
"cds_end": null,
"cds_length": 6966,
"cds_start": 2590,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322254.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2590_2592delTCAinsCTC",
"hgvs_p": "p.Ser864Leu",
"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": "L",
"aa_end": null,
"aa_length": 2321,
"aa_ref": "S",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8322,
"cdna_start": 3128,
"cds_end": null,
"cds_length": 6966,
"cds_start": 2590,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322258.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2590_2592delTCAinsCTC",
"hgvs_p": "p.Ser864Leu",
"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": "L",
"aa_end": null,
"aa_length": 2252,
"aa_ref": "S",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8695,
"cdna_start": 3501,
"cds_end": null,
"cds_length": 6759,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318153.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2383_2385delTCAinsCTC",
"hgvs_p": "p.Ser795Leu",
"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": "L",
"aa_end": null,
"aa_length": 2486,
"aa_ref": "S",
"aa_start": 1029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12129,
"cdna_start": 6935,
"cds_end": null,
"cds_length": 7461,
"cds_start": 3085,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424774.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.3085_3087delTCAinsCTC",
"hgvs_p": "p.Ser1029Leu",
"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": "L",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8314,
"cdna_start": 3120,
"cds_end": null,
"cds_length": 7077,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017015897.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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": "L",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21743,
"cdna_start": 16549,
"cds_end": null,
"cds_length": 7077,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017015898.2",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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": "L",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8494,
"cdna_start": 3300,
"cds_end": null,
"cds_length": 7077,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424772.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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": "L",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8380,
"cdna_start": 3186,
"cds_end": null,
"cds_length": 7077,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424773.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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": "L",
"aa_end": null,
"aa_length": 1850,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6163,
"cdna_start": 3300,
"cds_end": null,
"cds_length": 5553,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424775.1",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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": "L",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7323,
"cdna_start": 3300,
"cds_end": null,
"cds_length": 4557,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011539508.3",
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"hgvs_c": "c.2701_2703delTCAinsCTC",
"hgvs_p": "p.Ser901Leu",
"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.3275_3277delTCAinsCTC",
"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": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 12313,
"gene_symbol": "JMJD1C",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.177,
"pos": 63208420,
"ref": "TGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_032776.3"
}
]
}