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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: 6-15513251-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=15513251&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 15513251,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000341776.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Leu1093Leu",
"transcript": "NM_004973.4",
"protein_id": "NP_004964.2",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3279,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3750,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": "ENST00000341776.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Leu1093Leu",
"transcript": "ENST00000341776.7",
"protein_id": "ENSP00000341280.2",
"transcript_support_level": 1,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3279,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3750,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": "NM_004973.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.2763G>A",
"hgvs_p": "p.Leu921Leu",
"transcript": "NM_001267040.1",
"protein_id": "NP_001253969.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2763,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.2763G>A",
"hgvs_p": "p.Leu921Leu",
"transcript": "ENST00000397311.4",
"protein_id": "ENSP00000380478.3",
"transcript_support_level": 2,
"aa_start": 921,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2763,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3468G>A",
"hgvs_p": "p.Leu1156Leu",
"transcript": "XM_011514579.4",
"protein_id": "XP_011512881.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3468,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3423G>A",
"hgvs_p": "p.Leu1141Leu",
"transcript": "XM_017010833.3",
"protein_id": "XP_016866322.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3894,
"cdna_end": null,
"cdna_length": 6147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3369G>A",
"hgvs_p": "p.Leu1123Leu",
"transcript": "XM_047418735.1",
"protein_id": "XP_047274691.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3369,
"cds_end": null,
"cds_length": 3831,
"cdna_start": 3840,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3324G>A",
"hgvs_p": "p.Leu1108Leu",
"transcript": "XM_047418736.1",
"protein_id": "XP_047274692.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3324,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3264G>A",
"hgvs_p": "p.Leu1088Leu",
"transcript": "XM_047418737.1",
"protein_id": "XP_047274693.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3264G>A",
"hgvs_p": "p.Leu1088Leu",
"transcript": "XM_047418738.1",
"protein_id": "XP_047274694.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 5741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3210G>A",
"hgvs_p": "p.Leu1070Leu",
"transcript": "XM_024446424.2",
"protein_id": "XP_024302192.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3210,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3248,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.3165G>A",
"hgvs_p": "p.Leu1055Leu",
"transcript": "XM_047418739.1",
"protein_id": "XP_047274695.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3165,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3203,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.2871G>A",
"hgvs_p": "p.Leu957Leu",
"transcript": "XM_047418740.1",
"protein_id": "XP_047274696.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2871,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.2763G>A",
"hgvs_p": "p.Leu921Leu",
"transcript": "XM_017010835.3",
"protein_id": "XP_016866324.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2763,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 5330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.2763G>A",
"hgvs_p": "p.Leu921Leu",
"transcript": "XM_047418741.1",
"protein_id": "XP_047274697.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2763,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3434,
"cdna_end": null,
"cdna_length": 5687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.2763G>A",
"hgvs_p": "p.Leu921Leu",
"transcript": "XM_047418742.1",
"protein_id": "XP_047274698.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2763,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 5642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.2763G>A",
"hgvs_p": "p.Leu921Leu",
"transcript": "XM_047418743.1",
"protein_id": "XP_047274699.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2763,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3043,
"cdna_end": null,
"cdna_length": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.2346G>A",
"hgvs_p": "p.Leu782Leu",
"transcript": "XM_047418747.1",
"protein_id": "XP_047274703.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 935,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 10804,
"cdna_end": null,
"cdna_length": 13057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"dbsnp": "rs2235258",
"frequency_reference_population": 0.7387684,
"hom_count_reference_population": 434832,
"allele_count_reference_population": 1159070,
"gnomad_exomes_af": 0.748617,
"gnomad_genomes_af": 0.647071,
"gnomad_exomes_ac": 1060613,
"gnomad_genomes_ac": 98457,
"gnomad_exomes_homalt": 400585,
"gnomad_genomes_homalt": 34247,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.521,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000341776.7",
"gene_symbol": "JARID2",
"hgnc_id": 6196,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Leu1093Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}