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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: X-17068772-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=17068772&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 17068772,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000357277.8",
"consequences": [
{
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null,
"transcript": "NM_004726.3",
"protein_id": "NP_004717.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7978,
"mane_select": "ENST00000357277.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null,
"transcript": "ENST00000357277.8",
"protein_id": "ENSP00000349824.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7978,
"mane_select": "NM_004726.3",
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1276+301G>A",
"hgvs_p": null,
"transcript": "ENST00000303843.7",
"protein_id": "ENSP00000306033.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7771,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1276+301G>A",
"hgvs_p": null,
"transcript": "NM_001080975.2",
"protein_id": "NP_001074444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7975,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null,
"transcript": "XM_011545603.3",
"protein_id": "XP_011543905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4685,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1276+301G>A",
"hgvs_p": null,
"transcript": "XM_011545604.3",
"protein_id": "XP_011543906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4682,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1276+301G>A",
"hgvs_p": null,
"transcript": "XM_011545605.3",
"protein_id": "XP_011543907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4682,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1273+301G>A",
"hgvs_p": null,
"transcript": "XM_017029955.2",
"protein_id": "XP_016885444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4679,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1276+301G>A",
"hgvs_p": null,
"transcript": "XM_047442626.1",
"protein_id": "XP_047298582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7975,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null,
"transcript": "XM_017029956.3",
"protein_id": "XP_016885445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4761,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null,
"transcript": "XM_017029957.2",
"protein_id": "XP_016885446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": -4,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2175,
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null,
"transcript": "XM_011545606.3",
"protein_id": "XP_011543908.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1276+301G>A",
"hgvs_p": null,
"transcript": "XM_024452479.2",
"protein_id": "XP_024308247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4499,
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null,
"transcript": "XM_005274625.4",
"protein_id": "XP_005274682.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 599,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1276+301G>A",
"hgvs_p": null,
"transcript": "XM_005274626.4",
"protein_id": "XP_005274683.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 598,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1276+301G>A",
"hgvs_p": null,
"transcript": "XM_017029958.2",
"protein_id": "XP_016885447.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1003+301G>A",
"hgvs_p": null,
"transcript": "XM_011545607.3",
"protein_id": "XP_011543909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1003+301G>A",
"hgvs_p": null,
"transcript": "XM_047442627.1",
"protein_id": "XP_047298583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 568,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7702,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null,
"transcript": "XM_047442628.1",
"protein_id": "XP_047298584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1730,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "REPS2",
"gene_hgnc_id": 9963,
"dbsnp": "rs2006847",
"frequency_reference_population": 0.43511075,
"hom_count_reference_population": 22111,
"allele_count_reference_population": 48544,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.435111,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 48544,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 7775,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.071,
"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": -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": "ENST00000357277.8",
"gene_symbol": "REPS2",
"hgnc_id": 9963,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1279+301G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}