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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: 19-17228303-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17228303&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17228303,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000215061.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Lys222Lys",
"transcript": "NM_024578.3",
"protein_id": "NP_078854.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 264,
"cds_start": 666,
"cds_end": null,
"cds_length": 795,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "ENST00000215061.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Lys222Lys",
"transcript": "ENST00000215061.9",
"protein_id": "ENSP00000215061.3",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 264,
"cds_start": 666,
"cds_end": null,
"cds_length": 795,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "NM_024578.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Lys183Lys",
"transcript": "ENST00000598068.5",
"protein_id": "ENSP00000471311.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 245,
"cds_start": 549,
"cds_end": null,
"cds_length": 738,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Lys220Lys",
"transcript": "ENST00000600232.5",
"protein_id": "ENSP00000469261.1",
"transcript_support_level": 5,
"aa_start": 220,
"aa_end": null,
"aa_length": 243,
"cds_start": 660,
"cds_end": null,
"cds_length": 732,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Lys166Lys",
"transcript": "ENST00000597836.5",
"protein_id": "ENSP00000470270.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 208,
"cds_start": 498,
"cds_end": null,
"cds_length": 627,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Lys16Lys",
"transcript": "ENST00000595573.1",
"protein_id": "ENSP00000470883.1",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 94,
"cds_start": 48,
"cds_end": null,
"cds_length": 285,
"cdna_start": 50,
"cdna_end": null,
"cdna_length": 376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Lys16Lys",
"transcript": "ENST00000600826.1",
"protein_id": "ENSP00000469624.1",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 68,
"cds_start": 48,
"cds_end": null,
"cds_length": 207,
"cdna_start": 48,
"cdna_end": null,
"cdna_length": 348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Lys222Lys",
"transcript": "XM_006722899.5",
"protein_id": "XP_006722962.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 245,
"cds_start": 666,
"cds_end": null,
"cds_length": 738,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 905,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "n.795G>A",
"hgvs_p": null,
"transcript": "ENST00000594283.5",
"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": 1201,
"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": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "n.90G>A",
"hgvs_p": null,
"transcript": "ENST00000595769.1",
"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": 730,
"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": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "n.632G>A",
"hgvs_p": null,
"transcript": "ENST00000596279.1",
"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": 842,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "n.*197G>A",
"hgvs_p": null,
"transcript": "ENST00000598172.1",
"protein_id": "ENSP00000470258.1",
"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": 752,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "n.*46G>A",
"hgvs_p": null,
"transcript": "ENST00000599286.1",
"protein_id": "ENSP00000471742.1",
"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": 421,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "n.646G>A",
"hgvs_p": null,
"transcript": "ENST00000599588.5",
"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": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.*2G>A",
"hgvs_p": null,
"transcript": "ENST00000601529.5",
"protein_id": "ENSP00000471201.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 942,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "n.*197G>A",
"hgvs_p": null,
"transcript": "ENST00000598172.1",
"protein_id": "ENSP00000470258.1",
"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": 752,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "n.*46G>A",
"hgvs_p": null,
"transcript": "ENST00000599286.1",
"protein_id": "ENSP00000471742.1",
"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": 421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.*46G>A",
"hgvs_p": null,
"transcript": "XM_047439441.1",
"protein_id": "XP_047295397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"hgvs_c": "c.*2G>A",
"hgvs_p": null,
"transcript": "XM_047439442.1",
"protein_id": "XP_047295398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OCEL1",
"gene_hgnc_id": 26221,
"dbsnp": "rs14129",
"frequency_reference_population": 0.13885549,
"hom_count_reference_population": 18429,
"allele_count_reference_population": 224055,
"gnomad_exomes_af": 0.135386,
"gnomad_genomes_af": 0.172216,
"gnomad_exomes_ac": 197875,
"gnomad_genomes_ac": 26180,
"gnomad_exomes_homalt": 15744,
"gnomad_genomes_homalt": 2685,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.746,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000215061.9",
"gene_symbol": "OCEL1",
"hgnc_id": 26221,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Lys222Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}