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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: 3-121993288-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121993288&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121993288,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001199799.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "NM_001199799.2",
"protein_id": "NP_001186728.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 546,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344209.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199799.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "ENST00000344209.10",
"protein_id": "ENSP00000345667.5",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 546,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199799.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344209.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1329G>A",
"hgvs_p": "p.Arg443Arg",
"transcript": "ENST00000273691.7",
"protein_id": "ENSP00000273691.3",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 502,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273691.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Arg398Arg",
"transcript": "ENST00000393631.5",
"protein_id": "ENSP00000377251.1",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 457,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393631.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "n.1411G>A",
"hgvs_p": null,
"transcript": "ENST00000460554.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460554.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1455G>A",
"hgvs_p": "p.Arg485Arg",
"transcript": "ENST00000891214.1",
"protein_id": "ENSP00000561273.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 544,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891214.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1329G>A",
"hgvs_p": "p.Arg443Arg",
"transcript": "NM_175924.4",
"protein_id": "NP_787120.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 502,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175924.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1323G>A",
"hgvs_p": "p.Arg441Arg",
"transcript": "ENST00000914512.1",
"protein_id": "ENSP00000584571.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 500,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914512.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1314G>A",
"hgvs_p": "p.Arg438Arg",
"transcript": "ENST00000891215.1",
"protein_id": "ENSP00000561274.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 497,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891215.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000969537.1",
"protein_id": "ENSP00000639596.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 489,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969537.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Arg398Arg",
"transcript": "NM_001199800.2",
"protein_id": "NP_001186729.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 457,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199800.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Arg394Arg",
"transcript": "ENST00000891216.1",
"protein_id": "ENSP00000561275.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 453,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891216.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Arg354Arg",
"transcript": "ENST00000891213.1",
"protein_id": "ENSP00000561272.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 413,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891213.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "XM_011512738.3",
"protein_id": "XP_011511040.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 525,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512738.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1365G>A",
"hgvs_p": "p.Arg455Arg",
"transcript": "XM_005247389.5",
"protein_id": "XP_005247446.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 514,
"cds_start": 1365,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247389.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1329G>A",
"hgvs_p": "p.Arg443Arg",
"transcript": "XM_047448043.1",
"protein_id": "XP_047303999.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 481,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448043.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1056G>A",
"hgvs_p": "p.Arg352Arg",
"transcript": "XM_047448044.1",
"protein_id": "XP_047304000.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 411,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "n.*644G>A",
"hgvs_p": null,
"transcript": "ENST00000642615.1",
"protein_id": "ENSP00000495499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "n.*644G>A",
"hgvs_p": null,
"transcript": "ENST00000642615.1",
"protein_id": "ENSP00000495499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642615.1"
}
],
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"dbsnp": "rs189004426",
"frequency_reference_population": 0.000008676134,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889633,
"gnomad_genomes_af": 0.00000656401,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.182,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001199799.2",
"gene_symbol": "ILDR1",
"hgnc_id": 28741,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}