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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: 16-74674992-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74674992&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MLKL",
"hgnc_id": 26617,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_152649.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2551,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4459403455257416,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_152649.4",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308807.12",
"protein_coding": true,
"protein_id": "NP_689862.1",
"strand": false,
"transcript": "NM_152649.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000308807.12",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152649.4",
"protein_coding": true,
"protein_id": "ENSP00000308351.7",
"strand": false,
"transcript": "ENST00000308807.12",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 263,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 792,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000306247.11",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303118.7",
"strand": false,
"transcript": "ENST00000306247.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 488,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862152.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532211.1",
"strand": false,
"transcript": "ENST00000862152.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 488,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862154.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532213.1",
"strand": false,
"transcript": "ENST00000862154.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1385,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862155.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1385C>T",
"hgvs_p": "p.Ala462Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532214.1",
"strand": false,
"transcript": "ENST00000862155.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862153.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532212.1",
"strand": false,
"transcript": "ENST00000862153.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925881.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595940.1",
"strand": false,
"transcript": "ENST00000925881.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 393,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000963639.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Ala372Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633698.1",
"strand": false,
"transcript": "ENST00000963639.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 263,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 792,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142497.3",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135969.1",
"strand": false,
"transcript": "NM_001142497.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 101,
"aa_ref": "A",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 458,
"cdna_start": 240,
"cds_end": null,
"cds_length": 306,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000576529.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459935.1",
"strand": false,
"transcript": "ENST00000576529.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005255834.5",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255891.1",
"strand": false,
"transcript": "XM_005255834.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000570846.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "n.3168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000570846.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000575695.5",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "n.1852C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000575695.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433704.1",
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289660.1",
"strand": true,
"transcript": "XM_047433704.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2144442235",
"effect": "missense_variant",
"frequency_reference_population": 6.8404694e-7,
"gene_hgnc_id": 26617,
"gene_symbol": "MLKL",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84047e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.905,
"pos": 74674992,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.246,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_152649.4"
}
]
}