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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: 11-63719410-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=63719410&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RTN3",
"hgnc_id": 10469,
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Gly303Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001265589.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.141,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.31442150473594666,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "G",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4917,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 3099,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001265589.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Gly303Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377819.10",
"protein_coding": true,
"protein_id": "NP_001252518.1",
"strand": true,
"transcript": "NM_001265589.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "G",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4917,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 3099,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000377819.10",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Gly303Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001265589.2",
"protein_coding": true,
"protein_id": "ENSP00000367050.5",
"strand": true,
"transcript": "ENST00000377819.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "G",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4886,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 3042,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000339997.8",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.851G>C",
"hgvs_p": "p.Gly284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344106.4",
"strand": true,
"transcript": "ENST00000339997.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 920,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": 713,
"cds_end": null,
"cds_length": 2763,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000540798.5",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.572G>C",
"hgvs_p": "p.Gly191Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442733.1",
"strand": true,
"transcript": "ENST00000540798.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 236,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": null,
"cds_end": null,
"cds_length": 711,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537981.5",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-30581G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440874.1",
"strand": true,
"transcript": "ENST00000537981.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "G",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5024,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 3177,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000961358.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Gly303Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631417.1",
"strand": true,
"transcript": "ENST00000961358.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "G",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4942,
"cdna_start": 986,
"cds_end": null,
"cds_length": 3120,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918371.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.851G>C",
"hgvs_p": "p.Gly284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588430.1",
"strand": true,
"transcript": "ENST00000918371.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "G",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": 988,
"cds_end": null,
"cds_length": 3042,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_201428.3",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.851G>C",
"hgvs_p": "p.Gly284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958831.1",
"strand": true,
"transcript": "NM_201428.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "G",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 3015,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000961361.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Gly303Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631420.1",
"strand": true,
"transcript": "ENST00000961361.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 920,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4581,
"cdna_start": 709,
"cds_end": null,
"cds_length": 2763,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001265590.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.572G>C",
"hgvs_p": "p.Gly191Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252519.1",
"strand": true,
"transcript": "NM_001265590.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 847,
"aa_ref": "G",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 490,
"cds_end": null,
"cds_length": 2544,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000869715.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Gly118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539774.1",
"strand": true,
"transcript": "ENST00000869715.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "G",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4917,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 3114,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011544730.3",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Gly303Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543032.1",
"strand": true,
"transcript": "XM_011544730.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 880,
"aa_ref": "G",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4151,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 2643,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017017091.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Gly303Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872580.1",
"strand": true,
"transcript": "XM_017017091.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 848,
"aa_ref": "G",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7261,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 2547,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017017092.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Gly303Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872581.1",
"strand": true,
"transcript": "XM_017017092.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 297,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": null,
"cds_end": null,
"cds_length": 894,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869710.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-1440G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539769.1",
"strand": true,
"transcript": "ENST00000869710.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 281,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": null,
"cds_end": null,
"cds_length": 846,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961359.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.199+14503G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631418.1",
"strand": true,
"transcript": "ENST00000961359.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918373.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-10065G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588432.1",
"strand": true,
"transcript": "ENST00000918373.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869714.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.241+5341G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539773.1",
"strand": true,
"transcript": "ENST00000869714.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": null,
"cds_end": null,
"cds_length": 771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961360.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-28044G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631419.1",
"strand": true,
"transcript": "ENST00000961360.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201429.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.199+14503G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958832.1",
"strand": true,
"transcript": "NM_201429.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356000.7",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.199+14503G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348279.3",
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.000013147,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.457,
"pos": 63719410,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.153,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001265589.2"
}
]
}