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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: 16-74675712-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74675712&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 74675712,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000308807.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.1091C>A",
"hgvs_p": "p.Thr364Lys",
"transcript": "NM_152649.4",
"protein_id": "NP_689862.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 471,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": "ENST00000308807.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.1091C>A",
"hgvs_p": "p.Thr364Lys",
"transcript": "ENST00000308807.12",
"protein_id": "ENSP00000308351.7",
"transcript_support_level": 2,
"aa_start": 364,
"aa_end": null,
"aa_length": 471,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": "NM_152649.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.536-308C>A",
"hgvs_p": null,
"transcript": "ENST00000306247.11",
"protein_id": "ENSP00000303118.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": -4,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.1091C>A",
"hgvs_p": "p.Thr364Lys",
"transcript": "XM_005255834.5",
"protein_id": "XP_005255891.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 471,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.1091C>A",
"hgvs_p": "p.Thr364Lys",
"transcript": "XM_047433704.1",
"protein_id": "XP_047289660.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 425,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "n.2702C>A",
"hgvs_p": null,
"transcript": "ENST00000570846.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "n.*160C>A",
"hgvs_p": null,
"transcript": "ENST00000571303.1",
"protein_id": "ENSP00000461110.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "n.1340C>A",
"hgvs_p": null,
"transcript": "ENST00000575695.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "n.*160C>A",
"hgvs_p": null,
"transcript": "ENST00000571303.1",
"protein_id": "ENSP00000461110.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.*39C>A",
"hgvs_p": null,
"transcript": "XM_047433705.1",
"protein_id": "XP_047289661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.*34C>A",
"hgvs_p": null,
"transcript": "XM_047433707.1",
"protein_id": "XP_047289663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.*62C>A",
"hgvs_p": null,
"transcript": "XM_047433708.1",
"protein_id": "XP_047289664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.*73C>A",
"hgvs_p": null,
"transcript": "XM_047433709.1",
"protein_id": "XP_047289665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.*39C>A",
"hgvs_p": null,
"transcript": "XM_047433710.1",
"protein_id": "XP_047289666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.536-308C>A",
"hgvs_p": null,
"transcript": "NM_001142497.3",
"protein_id": "NP_001135969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": -4,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"hgvs_c": "c.50-308C>A",
"hgvs_p": null,
"transcript": "ENST00000576529.1",
"protein_id": "ENSP00000459935.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": -4,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MLKL",
"gene_hgnc_id": 26617,
"dbsnp": "rs34389205",
"frequency_reference_population": 0.00019206249,
"hom_count_reference_population": 1,
"allele_count_reference_population": 310,
"gnomad_exomes_af": 0.000197696,
"gnomad_genomes_af": 0.000137964,
"gnomad_exomes_ac": 289,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00467991828918457,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.0704,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.027,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000308807.12",
"gene_symbol": "MLKL",
"hgnc_id": 26617,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1091C>A",
"hgvs_p": "p.Thr364Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}