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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: 19-17226294-CG-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17226294&ref=CG&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "OCEL1",
"hgnc_id": 26221,
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_024578.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 264,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 69,
"cds_end": null,
"cds_length": 795,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024578.3",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000215061.9",
"protein_coding": true,
"protein_id": "NP_078854.1",
"strand": true,
"transcript": "NM_024578.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 264,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 69,
"cds_end": null,
"cds_length": 795,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000215061.9",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024578.3",
"protein_coding": true,
"protein_id": "ENSP00000215061.3",
"strand": true,
"transcript": "ENST00000215061.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 262,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": 97,
"cds_end": null,
"cds_length": 789,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928402.1",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598461.1",
"strand": true,
"transcript": "ENST00000928402.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 243,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": 42,
"cds_end": null,
"cds_length": 732,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600232.5",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.41_42delCGinsTA",
"hgvs_p": "p.Ser14Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469261.1",
"strand": true,
"transcript": "ENST00000600232.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 205,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 957,
"cdna_start": 92,
"cds_end": null,
"cds_length": 618,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928403.1",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598462.1",
"strand": true,
"transcript": "ENST00000928403.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 165,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": 70,
"cds_end": null,
"cds_length": 498,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601529.5",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471201.1",
"strand": true,
"transcript": "ENST00000601529.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 81,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": 91,
"cds_end": null,
"cds_length": 246,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928404.1",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598463.1",
"strand": true,
"transcript": "ENST00000928404.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 245,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 905,
"cdna_start": 69,
"cds_end": null,
"cds_length": 738,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722899.5",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722962.1",
"strand": true,
"transcript": "XM_006722899.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 174,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 696,
"cdna_start": 69,
"cds_end": null,
"cds_length": 525,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439440.1",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295396.1",
"strand": true,
"transcript": "XM_047439440.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 169,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 590,
"cdna_start": 69,
"cds_end": null,
"cds_length": 510,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439441.1",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295397.1",
"strand": true,
"transcript": "XM_047439441.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 165,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 528,
"cdna_start": 69,
"cds_end": null,
"cds_length": 498,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439442.1",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "c.47_48delCGinsTA",
"hgvs_p": "p.Ser16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295398.1",
"strand": true,
"transcript": "XM_047439442.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000594283.5",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "n.52_53delCGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000594283.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000599588.5",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "n.69_70delCGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000599588.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000601576.1",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "n.73_74delCGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000601576.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 524,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000602236.5",
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"hgvs_c": "n.82_83delCGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000602236.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 26221,
"gene_symbol": "OCEL1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.131,
"pos": 17226294,
"ref": "CG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_024578.3"
}
]
}