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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: 4-112377851-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112377851&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 112377851,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025144.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "NM_025144.4",
"protein_id": "NP_079420.3",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650871.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025144.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000650871.1",
"protein_id": "ENSP00000498374.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025144.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650871.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000177648.13",
"protein_id": "ENSP00000177648.9",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000177648.13"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000909431.1",
"protein_id": "ENSP00000579490.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1250,
"cds_start": 74,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909431.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "NM_001102406.2",
"protein_id": "NP_001095876.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102406.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000458497.6",
"protein_id": "ENSP00000398048.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458497.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000909430.1",
"protein_id": "ENSP00000579489.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909430.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000909432.1",
"protein_id": "ENSP00000579491.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909432.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000909433.1",
"protein_id": "ENSP00000579492.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909433.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000909434.1",
"protein_id": "ENSP00000579493.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909434.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val",
"transcript": "ENST00000951187.1",
"protein_id": "ENSP00000621246.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1244,
"cds_start": 74,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951187.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "NM_001253884.2",
"protein_id": "NP_001240813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1166,
"cds_start": null,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253884.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "ENST00000504176.6",
"protein_id": "ENSP00000426044.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1166,
"cds_start": null,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504176.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "n.74C>T",
"hgvs_p": null,
"transcript": "ENST00000505127.5",
"protein_id": "ENSP00000425559.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000505127.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "n.253C>T",
"hgvs_p": null,
"transcript": "ENST00000509688.5",
"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": "ENST00000509688.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "n.74C>T",
"hgvs_p": null,
"transcript": "ENST00000509722.5",
"protein_id": "ENSP00000424492.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509722.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "n.295C>T",
"hgvs_p": null,
"transcript": "ENST00000515106.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000515106.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"hgvs_c": "n.74C>T",
"hgvs_p": null,
"transcript": "ENST00000515330.5",
"protein_id": "ENSP00000423978.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000515330.5"
}
],
"gene_symbol": "ALPK1",
"gene_hgnc_id": 20917,
"dbsnp": "rs369223684",
"frequency_reference_population": 0.00001735657,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000177924,
"gnomad_genomes_af": 0.0000131641,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.047819823026657104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0869,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.568,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_025144.4",
"gene_symbol": "ALPK1",
"hgnc_id": 20917,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ala25Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}