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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: 15-65329840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65329840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65329840,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628Gln",
"transcript": "NM_004884.4",
"protein_id": "NP_004875.2",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 814,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 4441,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628Gln",
"transcript": "ENST00000327987.9",
"protein_id": "ENSP00000332773.4",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 814,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 4441,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1925G>A",
"hgvs_p": "p.Arg642Gln",
"transcript": "ENST00000920202.1",
"protein_id": "ENSP00000590261.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 828,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 4536,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1925G>A",
"hgvs_p": "p.Arg642Gln",
"transcript": "ENST00000920210.1",
"protein_id": "ENSP00000590269.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 827,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 3018,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628Gln",
"transcript": "ENST00000863890.1",
"protein_id": "ENSP00000533949.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 813,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 3363,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000920211.1",
"protein_id": "ENSP00000590270.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 790,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 2897,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000920204.1",
"protein_id": "ENSP00000590263.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 789,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 3291,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582Gln",
"transcript": "ENST00000920203.1",
"protein_id": "ENSP00000590262.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 768,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 4356,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582Gln",
"transcript": "ENST00000920201.1",
"protein_id": "ENSP00000590260.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 767,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4359,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573Gln",
"transcript": "ENST00000863891.1",
"protein_id": "ENSP00000533950.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 759,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 2851,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573Gln",
"transcript": "ENST00000920200.1",
"protein_id": "ENSP00000590259.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 758,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 4349,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1691G>A",
"hgvs_p": "p.Arg564Gln",
"transcript": "ENST00000920205.1",
"protein_id": "ENSP00000590264.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 750,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 3080,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527Gln",
"transcript": "ENST00000920207.1",
"protein_id": "ENSP00000590266.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 713,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 2735,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527Gln",
"transcript": "ENST00000920208.1",
"protein_id": "ENSP00000590267.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 712,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 2701,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490Gln",
"transcript": "ENST00000920206.1",
"protein_id": "ENSP00000590265.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 676,
"cds_start": 1469,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 2627,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1172G>A",
"hgvs_p": "p.Arg391Gln",
"transcript": "ENST00000920209.1",
"protein_id": "ENSP00000590268.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 577,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2271,
"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": 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.1472G>A",
"hgvs_p": "p.Arg491Gln",
"transcript": "ENST00000558354.5",
"protein_id": "ENSP00000454105.1",
"transcript_support_level": 5,
"aa_start": 491,
"aa_end": null,
"aa_length": 534,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558354.5"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628Gln",
"transcript": "XM_011522241.3",
"protein_id": "XP_011520543.3",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 813,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 4438,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505Gln",
"transcript": "XM_011522243.1",
"protein_id": "XP_011520545.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 691,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 4005,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Arg491Gln",
"transcript": "XM_011522244.2",
"protein_id": "XP_011520546.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 677,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 4289,
"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.*192G>A",
"hgvs_p": null,
"transcript": "XM_047433374.1",
"protein_id": "XP_047289330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433374.1"
}
],
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"dbsnp": "rs776056063",
"frequency_reference_population": 0.00002354507,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000253112,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08078035712242126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.784,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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.1883G>A",
"hgvs_p": "p.Arg628Gln"
}
],
"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
}