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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: 16-70463201-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70463201&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70463201,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145059.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "NM_145059.3",
"protein_id": "NP_659496.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1084,
"cds_start": 11,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000288078.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145059.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000288078.11",
"protein_id": "ENSP00000288078.6",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 1084,
"cds_start": 11,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145059.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288078.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000378912.6",
"protein_id": "ENSP00000368192.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 1090,
"cds_start": 11,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378912.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864954.1",
"protein_id": "ENSP00000535013.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1084,
"cds_start": 11,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864954.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864949.1",
"protein_id": "ENSP00000535008.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1058,
"cds_start": 11,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864949.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864946.1",
"protein_id": "ENSP00000535005.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1057,
"cds_start": 11,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864946.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864951.1",
"protein_id": "ENSP00000535010.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1055,
"cds_start": 11,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864951.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864953.1",
"protein_id": "ENSP00000535012.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1028,
"cds_start": 11,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864953.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864952.1",
"protein_id": "ENSP00000535011.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1010,
"cds_start": 11,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864952.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864950.1",
"protein_id": "ENSP00000535009.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 970,
"cds_start": 11,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864950.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864947.1",
"protein_id": "ENSP00000535006.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 967,
"cds_start": 11,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864947.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000864948.1",
"protein_id": "ENSP00000535007.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 962,
"cds_start": 11,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864948.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000963837.1",
"protein_id": "ENSP00000633896.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 941,
"cds_start": 11,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963837.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000574784.5",
"protein_id": "ENSP00000459168.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 155,
"cds_start": 11,
"cds_end": null,
"cds_length": 469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574784.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000576453.1",
"protein_id": "ENSP00000458622.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 145,
"cds_start": 11,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576453.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000572784.5",
"protein_id": "ENSP00000458483.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 119,
"cds_start": 11,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572784.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"transcript": "ENST00000573352.5",
"protein_id": "ENSP00000460484.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 108,
"cds_start": 11,
"cds_end": null,
"cds_length": 328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573352.5"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "c.-697-5648C>T",
"hgvs_p": null,
"transcript": "ENST00000571514.5",
"protein_id": "ENSP00000462584.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571514.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "n.69C>T",
"hgvs_p": null,
"transcript": "ENST00000464499.5",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464499.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "n.69C>T",
"hgvs_p": null,
"transcript": "ENST00000571487.5",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000571487.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"hgvs_c": "n.69C>T",
"hgvs_p": null,
"transcript": "ENST00000576107.5",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000576107.5"
}
],
"gene_symbol": "FCSK",
"gene_hgnc_id": 29500,
"dbsnp": "rs769711844",
"frequency_reference_population": 0.000059487957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 96,
"gnomad_exomes_af": 0.0000636232,
"gnomad_genomes_af": 0.0000197314,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015524059534072876,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0759,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.271,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "NM_145059.3",
"gene_symbol": "FCSK",
"hgnc_id": 29500,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu"
}
],
"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
}