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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: 13-30227425-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=30227425&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 30227425,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032116.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "NM_032116.5",
"protein_id": "NP_115492.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 7618,
"mane_select": "ENST00000380615.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032116.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "ENST00000380615.8",
"protein_id": "ENSP00000369989.3",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 7618,
"mane_select": "NM_032116.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380615.8"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1152A>G",
"hgvs_p": "p.Ile384Met",
"transcript": "ENST00000908524.1",
"protein_id": "ENSP00000578583.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 496,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908524.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1152A>G",
"hgvs_p": "p.Ile384Met",
"transcript": "ENST00000908525.1",
"protein_id": "ENSP00000578584.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 496,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908525.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "NM_001014380.3",
"protein_id": "NP_001014402.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014380.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "ENST00000380617.7",
"protein_id": "ENSP00000369991.3",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380617.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "ENST00000908522.1",
"protein_id": "ENSP00000578581.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 3682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908522.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "ENST00000931887.1",
"protein_id": "ENSP00000601946.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 4210,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931887.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "ENST00000961621.1",
"protein_id": "ENSP00000631680.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961621.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.999A>G",
"hgvs_p": "p.Ile333Met",
"transcript": "ENST00000931886.1",
"protein_id": "ENSP00000601945.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 445,
"cds_start": 999,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931886.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.999A>G",
"hgvs_p": "p.Ile333Met",
"transcript": "ENST00000961620.1",
"protein_id": "ENSP00000631679.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 445,
"cds_start": 999,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961620.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.900A>G",
"hgvs_p": "p.Ile300Met",
"transcript": "ENST00000908521.1",
"protein_id": "ENSP00000578580.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 412,
"cds_start": 900,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908521.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.900A>G",
"hgvs_p": "p.Ile300Met",
"transcript": "ENST00000908523.1",
"protein_id": "ENSP00000578582.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 412,
"cds_start": 900,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908523.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "XM_005266574.4",
"protein_id": "XP_005266631.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266574.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "XM_024449423.2",
"protein_id": "XP_024305191.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 7575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449423.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "XM_024449424.2",
"protein_id": "XP_024305192.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 7494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449424.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met",
"transcript": "XM_047430703.1",
"protein_id": "XP_047286659.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 13451,
"cdna_end": null,
"cdna_length": 19700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430703.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.630A>G",
"hgvs_p": "p.Ile210Met",
"transcript": "XM_017020793.3",
"protein_id": "XP_016876282.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 322,
"cds_start": 630,
"cds_end": null,
"cds_length": 969,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020793.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"hgvs_c": "c.630A>G",
"hgvs_p": "p.Ile210Met",
"transcript": "XM_047430704.1",
"protein_id": "XP_047286660.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 322,
"cds_start": 630,
"cds_end": null,
"cds_length": 969,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 6992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430704.1"
}
],
"gene_symbol": "KATNAL1",
"gene_hgnc_id": 28361,
"dbsnp": "rs960642762",
"frequency_reference_population": 0.0000030989918,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273691,
"gnomad_genomes_af": 0.00000658215,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9466332793235779,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.765,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_032116.5",
"gene_symbol": "KATNAL1",
"hgnc_id": 28361,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ile378Met"
}
],
"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
}