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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: 2-54982554-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54982554&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RTN4",
"hgnc_id": 14085,
"hgvs_c": "c.3321G>C",
"hgvs_p": "p.Arg1107Ser",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_020532.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9826,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.06,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8352982997894287,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "R",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 3472,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3321,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_020532.5",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.3321G>C",
"hgvs_p": "p.Arg1107Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337526.11",
"protein_coding": true,
"protein_id": "NP_065393.1",
"strand": false,
"transcript": "NM_020532.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "R",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 3472,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3321,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000337526.11",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.3321G>C",
"hgvs_p": "p.Arg1107Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020532.5",
"protein_coding": true,
"protein_id": "ENSP00000337838.6",
"strand": false,
"transcript": "ENST00000337526.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4110,
"cdna_start": 2885,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000357376.7",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349944.3",
"strand": false,
"transcript": "ENST00000357376.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 2936,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394611.6",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378109.2",
"strand": false,
"transcript": "ENST00000394611.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 2877,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000404909.5",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385650.1",
"strand": false,
"transcript": "ENST00000404909.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 2836,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000405240.5",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384471.1",
"strand": false,
"transcript": "ENST00000405240.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1179,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000357732.8",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Arg307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350365.4",
"strand": false,
"transcript": "ENST00000357732.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1122,
"cds_start": 864,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000317610.11",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Arg288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322147.7",
"strand": false,
"transcript": "ENST00000317610.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 671,
"cds_end": null,
"cds_length": 600,
"cds_start": 342,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000394609.6",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.342G>C",
"hgvs_p": "p.Arg114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378107.2",
"strand": false,
"transcript": "ENST00000394609.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4546,
"cdna_start": 3321,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321859.2",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308788.1",
"strand": false,
"transcript": "NM_001321859.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 2936,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321860.1",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308789.1",
"strand": false,
"transcript": "NM_001321860.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4124,
"cdna_start": 2899,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321861.2",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308790.1",
"strand": false,
"transcript": "NM_001321861.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4111,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
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"feature": "NM_001321862.2",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308791.1",
"strand": false,
"transcript": "NM_001321862.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 986,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": 3276,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321863.2",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308792.1",
"strand": false,
"transcript": "NM_001321863.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 986,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4539,
"cdna_start": 3314,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321904.2",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308833.1",
"strand": false,
"transcript": "NM_001321904.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_207521.2",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2703G>C",
"hgvs_p": "p.Arg901Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997404.1",
"strand": false,
"transcript": "NM_207521.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3963,
"cdna_start": 2742,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2484,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938587.1",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.2484G>C",
"hgvs_p": "p.Arg828Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608646.1",
"strand": false,
"transcript": "ENST00000938587.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 440,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1260,
"cds_end": null,
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"cds_start": 1065,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951906.1",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.1065G>C",
"hgvs_p": "p.Arg355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621965.1",
"strand": false,
"transcript": "ENST00000951906.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1206,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852508.1",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Arg316Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522567.1",
"strand": false,
"transcript": "ENST00000852508.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1179,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_207520.2",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Arg307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997403.1",
"strand": false,
"transcript": "NM_207520.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1122,
"cds_start": 864,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_153828.3",
"gene_hgnc_id": 14085,
"gene_symbol": "RTN4",
"hgvs_c": "c.864G>C",
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]
}