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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: 8-43122528-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=43122528&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 43122528,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000331373.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asn235Ile",
"transcript": "NM_032237.5",
"protein_id": "NP_115613.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 350,
"cds_start": 704,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000331373.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asn235Ile",
"transcript": "ENST00000331373.10",
"protein_id": "ENSP00000331258.5",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 350,
"cds_start": 704,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_032237.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asn235Ile",
"transcript": "NM_001277971.2",
"protein_id": "NP_001264900.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 350,
"cds_start": 704,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asn235Ile",
"transcript": "ENST00000676193.1",
"protein_id": "ENSP00000502774.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 350,
"cds_start": 704,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 9535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "c.662A>T",
"hgvs_p": "p.Asn221Ile",
"transcript": "ENST00000674937.1",
"protein_id": "ENSP00000501823.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 336,
"cds_start": 662,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.Asn141Ile",
"transcript": "ENST00000674676.1",
"protein_id": "ENSP00000502544.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 256,
"cds_start": 422,
"cds_end": null,
"cds_length": 771,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.Asn141Ile",
"transcript": "ENST00000675675.1",
"protein_id": "ENSP00000501793.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 256,
"cds_start": 422,
"cds_end": null,
"cds_length": 771,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "n.*500A>T",
"hgvs_p": null,
"transcript": "ENST00000614426.2",
"protein_id": "ENSP00000478821.2",
"transcript_support_level": 4,
"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": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "n.422A>T",
"hgvs_p": null,
"transcript": "ENST00000674646.1",
"protein_id": "ENSP00000501703.1",
"transcript_support_level": null,
"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": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "n.*624A>T",
"hgvs_p": null,
"transcript": "ENST00000674782.1",
"protein_id": "ENSP00000501683.1",
"transcript_support_level": null,
"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": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "n.422A>T",
"hgvs_p": null,
"transcript": "ENST00000675322.1",
"protein_id": "ENSP00000502235.1",
"transcript_support_level": null,
"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": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "n.*489A>T",
"hgvs_p": null,
"transcript": "ENST00000676178.1",
"protein_id": "ENSP00000502007.1",
"transcript_support_level": null,
"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": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "n.*500A>T",
"hgvs_p": null,
"transcript": "ENST00000614426.2",
"protein_id": "ENSP00000478821.2",
"transcript_support_level": 4,
"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": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "n.*624A>T",
"hgvs_p": null,
"transcript": "ENST00000674782.1",
"protein_id": "ENSP00000501683.1",
"transcript_support_level": null,
"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": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"hgvs_c": "n.*489A>T",
"hgvs_p": null,
"transcript": "ENST00000676178.1",
"protein_id": "ENSP00000502007.1",
"transcript_support_level": null,
"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": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POMK",
"gene_hgnc_id": 26267,
"dbsnp": "rs200742772",
"frequency_reference_population": 0.0000027362476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273625,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3169557452201843,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.2322,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.776,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000331373.10",
"gene_symbol": "POMK",
"hgnc_id": 26267,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Asn235Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}