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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: 6-116732280-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=116732280&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 116732280,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366304.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1577T>C",
"hgvs_p": "p.Ile526Thr",
"transcript": "NM_001366306.2",
"protein_id": "NP_001353235.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 539,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 11288,
"mane_select": "ENST00000368564.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366306.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1577T>C",
"hgvs_p": "p.Ile526Thr",
"transcript": "ENST00000368564.7",
"protein_id": "ENSP00000357552.1",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 539,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 11288,
"mane_select": "NM_001366306.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368564.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1577T>C",
"hgvs_p": "p.Ile526Thr",
"transcript": "ENST00000356348.6",
"protein_id": "ENSP00000348704.1",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 539,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356348.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1652T>C",
"hgvs_p": "p.Ile551Thr",
"transcript": "ENST00000937498.1",
"protein_id": "ENSP00000607557.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 564,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937498.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1637T>C",
"hgvs_p": "p.Ile546Thr",
"transcript": "NM_001366304.1",
"protein_id": "NP_001353233.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366304.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1637T>C",
"hgvs_p": "p.Ile546Thr",
"transcript": "NM_001366305.2",
"protein_id": "NP_001353234.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 11348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366305.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1637T>C",
"hgvs_p": "p.Ile546Thr",
"transcript": "ENST00000697697.1",
"protein_id": "ENSP00000513404.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 5086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697697.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Ile533Thr",
"transcript": "ENST00000967749.1",
"protein_id": "ENSP00000637808.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 546,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967749.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1577T>C",
"hgvs_p": "p.Ile526Thr",
"transcript": "NM_002269.3",
"protein_id": "NP_002260.2",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 539,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002269.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1568T>C",
"hgvs_p": "p.Ile523Thr",
"transcript": "NM_001366307.2",
"protein_id": "NP_001353236.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 536,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 11394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366307.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1568T>C",
"hgvs_p": "p.Ile523Thr",
"transcript": "ENST00000697699.1",
"protein_id": "ENSP00000513406.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 536,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697699.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1535T>C",
"hgvs_p": "p.Ile512Thr",
"transcript": "ENST00000937497.1",
"protein_id": "ENSP00000607556.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 525,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 5047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937497.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1487T>C",
"hgvs_p": "p.Ile496Thr",
"transcript": "ENST00000967750.1",
"protein_id": "ENSP00000637809.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 509,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967750.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Ile492Thr",
"transcript": "ENST00000697696.1",
"protein_id": "ENSP00000513403.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 505,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697696.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.956T>C",
"hgvs_p": "p.Ile319Thr",
"transcript": "XM_017010841.3",
"protein_id": "XP_016866330.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 332,
"cds_start": 956,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010841.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.956T>C",
"hgvs_p": "p.Ile319Thr",
"transcript": "XM_047418751.1",
"protein_id": "XP_047274707.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 332,
"cds_start": 956,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 10676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418751.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.941T>C",
"hgvs_p": "p.Ile314Thr",
"transcript": "XM_047418752.1",
"protein_id": "XP_047274708.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 327,
"cds_start": 941,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 10628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "c.1432+2539T>C",
"hgvs_p": null,
"transcript": "NM_001366308.1",
"protein_id": "NP_001353237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "n.*1560T>C",
"hgvs_p": null,
"transcript": "ENST00000697698.1",
"protein_id": "ENSP00000513405.1",
"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": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"hgvs_c": "n.*1560T>C",
"hgvs_p": null,
"transcript": "ENST00000697698.1",
"protein_id": "ENSP00000513405.1",
"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": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697698.1"
}
],
"gene_symbol": "KPNA5",
"gene_hgnc_id": 6398,
"dbsnp": "rs369915373",
"frequency_reference_population": 0.000040307586,
"hom_count_reference_population": 0,
"allele_count_reference_population": 62,
"gnomad_exomes_af": 0.0000432589,
"gnomad_genomes_af": 0.0000132298,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11397889256477356,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.1401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.471,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001366304.1",
"gene_symbol": "KPNA5",
"hgnc_id": 6398,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1637T>C",
"hgvs_p": "p.Ile546Thr"
}
],
"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
}