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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: 12-22673611-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=22673611&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 22673611,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018638.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.896C>G",
"hgvs_p": "p.Thr299Ser",
"transcript": "NM_018638.5",
"protein_id": "NP_061108.3",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 363,
"cds_start": 896,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266517.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018638.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.896C>G",
"hgvs_p": "p.Thr299Ser",
"transcript": "ENST00000266517.9",
"protein_id": "ENSP00000266517.4",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 363,
"cds_start": 896,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018638.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266517.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.896C>G",
"hgvs_p": "p.Thr299Ser",
"transcript": "ENST00000538218.2",
"protein_id": "ENSP00000446292.2",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 345,
"cds_start": 896,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538218.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.1163C>G",
"hgvs_p": "p.Thr388Ser",
"transcript": "ENST00000671733.1",
"protein_id": "ENSP00000500633.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 452,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671733.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.923C>G",
"hgvs_p": "p.Thr308Ser",
"transcript": "ENST00000864020.1",
"protein_id": "ENSP00000534079.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 372,
"cds_start": 923,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864020.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.908C>G",
"hgvs_p": "p.Thr303Ser",
"transcript": "ENST00000960838.1",
"protein_id": "ENSP00000630897.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 367,
"cds_start": 908,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960838.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "ENST00000930361.1",
"protein_id": "ENSP00000600420.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 360,
"cds_start": 887,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930361.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.812C>G",
"hgvs_p": "p.Thr271Ser",
"transcript": "ENST00000864021.1",
"protein_id": "ENSP00000534080.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 335,
"cds_start": 812,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864021.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "c.896C>G",
"hgvs_p": "p.Thr299Ser",
"transcript": "XM_017019580.2",
"protein_id": "XP_016875069.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 336,
"cds_start": 896,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019580.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "n.382C>G",
"hgvs_p": null,
"transcript": "ENST00000544191.1",
"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": "ENST00000544191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "n.620C>G",
"hgvs_p": null,
"transcript": "ENST00000673188.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000673188.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "n.*655C>G",
"hgvs_p": null,
"transcript": "ENST00000673406.1",
"protein_id": "ENSP00000500830.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"hgvs_c": "n.*655C>G",
"hgvs_p": null,
"transcript": "ENST00000673406.1",
"protein_id": "ENSP00000500830.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673406.1"
}
],
"gene_symbol": "ETNK1",
"gene_hgnc_id": 24649,
"dbsnp": "rs1383695446",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08611613512039185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.227,
"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": 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_018638.5",
"gene_symbol": "ETNK1",
"hgnc_id": 24649,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.896C>G",
"hgvs_p": "p.Thr299Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}