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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: 15-65329544-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65329544&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65329544,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004884.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "NM_004884.4",
"protein_id": "NP_004875.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 814,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327987.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004884.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "ENST00000327987.9",
"protein_id": "ENSP00000332773.4",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 814,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004884.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327987.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698Gln",
"transcript": "ENST00000920202.1",
"protein_id": "ENSP00000590261.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 828,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920202.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698Gln",
"transcript": "ENST00000920210.1",
"protein_id": "ENSP00000590269.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 827,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920210.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "ENST00000863890.1",
"protein_id": "ENSP00000533949.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 813,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863890.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Arg660Gln",
"transcript": "ENST00000920211.1",
"protein_id": "ENSP00000590270.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 790,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920211.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Arg660Gln",
"transcript": "ENST00000920204.1",
"protein_id": "ENSP00000590263.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 789,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920204.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1913G>A",
"hgvs_p": "p.Arg638Gln",
"transcript": "ENST00000920203.1",
"protein_id": "ENSP00000590262.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 768,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920203.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1913G>A",
"hgvs_p": "p.Arg638Gln",
"transcript": "ENST00000920201.1",
"protein_id": "ENSP00000590260.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 767,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920201.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1886G>A",
"hgvs_p": "p.Arg629Gln",
"transcript": "ENST00000863891.1",
"protein_id": "ENSP00000533950.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 759,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863891.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1886G>A",
"hgvs_p": "p.Arg629Gln",
"transcript": "ENST00000920200.1",
"protein_id": "ENSP00000590259.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 758,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920200.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1859G>A",
"hgvs_p": "p.Arg620Gln",
"transcript": "ENST00000920205.1",
"protein_id": "ENSP00000590264.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 750,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920205.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000920207.1",
"protein_id": "ENSP00000590266.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 713,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920207.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000920208.1",
"protein_id": "ENSP00000590267.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 712,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920208.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546Gln",
"transcript": "ENST00000920206.1",
"protein_id": "ENSP00000590265.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 676,
"cds_start": 1637,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920206.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Arg447Gln",
"transcript": "ENST00000920209.1",
"protein_id": "ENSP00000590268.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 577,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920209.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "XM_011522241.3",
"protein_id": "XP_011520543.3",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 813,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522241.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "XM_011522243.1",
"protein_id": "XP_011520545.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 691,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522243.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547Gln",
"transcript": "XM_011522244.2",
"protein_id": "XP_011520546.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 677,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522244.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.*35G>A",
"hgvs_p": null,
"transcript": "ENST00000558354.5",
"protein_id": "ENSP00000454105.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558354.5"
}
],
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"dbsnp": "rs766501573",
"frequency_reference_population": 0.000013050725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000130408,
"gnomad_genomes_af": 0.0000131454,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0961262583732605,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1203,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.838,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004884.4",
"gene_symbol": "IGDCC3",
"hgnc_id": 9700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}