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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: 18-70205267-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=70205267&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 70205267,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000640769.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "NM_173630.4",
"protein_id": "NP_775901.3",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 2226,
"cds_start": 80,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 7830,
"mane_select": "ENST00000640769.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "ENST00000640769.2",
"protein_id": "ENSP00000491507.1",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 2226,
"cds_start": 80,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 7830,
"mane_select": "NM_173630.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.80G>T",
"hgvs_p": null,
"transcript": "ENST00000581161.5",
"protein_id": "ENSP00000462926.1",
"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": 6722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "ENST00000255674.11",
"protein_id": "ENSP00000255674.7",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 2200,
"cds_start": 80,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 6960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_006722434.4",
"protein_id": "XP_006722497.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 2227,
"cds_start": 80,
"cds_end": null,
"cds_length": 6684,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 7833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_011525902.3",
"protein_id": "XP_011524204.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 2147,
"cds_start": 80,
"cds_end": null,
"cds_length": 6444,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 7593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_017025693.2",
"protein_id": "XP_016881182.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 2146,
"cds_start": 80,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 7590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_011525903.3",
"protein_id": "XP_011524205.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 2084,
"cds_start": 80,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 7404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_047437468.1",
"protein_id": "XP_047293424.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 2083,
"cds_start": 80,
"cds_end": null,
"cds_length": 6252,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_006722435.4",
"protein_id": "XP_006722498.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 2059,
"cds_start": 80,
"cds_end": null,
"cds_length": 6180,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 8425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_011525904.4",
"protein_id": "XP_011524206.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1990,
"cds_start": 80,
"cds_end": null,
"cds_length": 5973,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 7616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_011525905.3",
"protein_id": "XP_011524207.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1777,
"cds_start": 80,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_011525907.3",
"protein_id": "XP_011524209.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1597,
"cds_start": 80,
"cds_end": null,
"cds_length": 4794,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_047437469.1",
"protein_id": "XP_047293425.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1463,
"cds_start": 80,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe",
"transcript": "XM_047437470.1",
"protein_id": "XP_047293426.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1212,
"cds_start": 80,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.148G>T",
"hgvs_p": null,
"transcript": "ENST00000581583.1",
"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": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.80G>T",
"hgvs_p": null,
"transcript": "ENST00000638251.1",
"protein_id": "ENSP00000491968.1",
"transcript_support_level": 5,
"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": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.109G>T",
"hgvs_p": null,
"transcript": "XR_007066140.1",
"protein_id": null,
"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": 4609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.109G>T",
"hgvs_p": null,
"transcript": "XR_430072.4",
"protein_id": null,
"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": 5878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.-2474G>T",
"hgvs_p": null,
"transcript": "NM_001318520.2",
"protein_id": "NP_001305449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1314,
"cds_start": -4,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.-73G>T",
"hgvs_p": null,
"transcript": "ENST00000640736.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"dbsnp": "rs201884120",
"frequency_reference_population": 6.8404506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.272413969039917,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.194,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.644,
"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": 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": "ENST00000640769.2",
"gene_symbol": "RTTN",
"hgnc_id": 18654,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Cys27Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}