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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: 12-51889089-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51889089&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51889089,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182608.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.419A>T",
"hgvs_p": "p.Tyr140Phe",
"transcript": "NM_182608.4",
"protein_id": "NP_872414.3",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 452,
"cds_start": 419,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": "ENST00000301190.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.419A>T",
"hgvs_p": "p.Tyr140Phe",
"transcript": "ENST00000301190.11",
"protein_id": "ENSP00000301190.6",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 452,
"cds_start": 419,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": "NM_182608.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.14A>T",
"hgvs_p": "p.Tyr5Phe",
"transcript": "ENST00000340970.8",
"protein_id": "ENSP00000344690.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 272,
"cds_start": 14,
"cds_end": null,
"cds_length": 819,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 1507,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "n.338A>T",
"hgvs_p": null,
"transcript": "ENST00000547119.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1504,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "n.826A>T",
"hgvs_p": null,
"transcript": "ENST00000548383.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "n.396+271A>T",
"hgvs_p": null,
"transcript": "ENST00000549751.5",
"protein_id": "ENSP00000448116.1",
"transcript_support_level": 1,
"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": 1286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.14A>T",
"hgvs_p": "p.Tyr5Phe",
"transcript": "NM_001304459.2",
"protein_id": "NP_001291388.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 348,
"cds_start": 14,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.14A>T",
"hgvs_p": "p.Tyr5Phe",
"transcript": "NM_001130015.2",
"protein_id": "NP_001123487.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 272,
"cds_start": 14,
"cds_end": null,
"cds_length": 819,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.446A>T",
"hgvs_p": "p.Tyr149Phe",
"transcript": "XM_047428784.1",
"protein_id": "XP_047284740.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 471,
"cds_start": 446,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.419A>T",
"hgvs_p": "p.Tyr140Phe",
"transcript": "XM_047428782.1",
"protein_id": "XP_047284738.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 244,
"cds_start": 419,
"cds_end": null,
"cds_length": 735,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.446A>T",
"hgvs_p": "p.Tyr149Phe",
"transcript": "XM_017019258.2",
"protein_id": "XP_016874747.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 221,
"cds_start": 446,
"cds_end": null,
"cds_length": 666,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.419A>T",
"hgvs_p": "p.Tyr140Phe",
"transcript": "XM_047428783.1",
"protein_id": "XP_047284739.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 212,
"cds_start": 419,
"cds_end": null,
"cds_length": 639,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2291,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "n.751A>T",
"hgvs_p": null,
"transcript": "ENST00000548526.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "c.-87+271A>T",
"hgvs_p": null,
"transcript": "NM_001304460.2",
"protein_id": "NP_001291389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"hgvs_c": "n.239+271A>T",
"hgvs_p": null,
"transcript": "ENST00000549316.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD33",
"gene_hgnc_id": 13788,
"dbsnp": "rs697636",
"frequency_reference_population": 0.3343724,
"hom_count_reference_population": 93587,
"allele_count_reference_population": 539655,
"gnomad_exomes_af": 0.338503,
"gnomad_genomes_af": 0.294666,
"gnomad_exomes_ac": 494841,
"gnomad_genomes_ac": 44814,
"gnomad_exomes_homalt": 86189,
"gnomad_genomes_homalt": 7398,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0014339983463287354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.1483,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.284,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_182608.4",
"gene_symbol": "ANKRD33",
"hgnc_id": 13788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.419A>T",
"hgvs_p": "p.Tyr140Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}