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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: 13-77051896-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77051896&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYCBP2",
"hgnc_id": 23386,
"hgvs_c": "c.13670G>T",
"hgvs_p": "p.Arg4557Leu",
"inheritance_mode": "AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_015057.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000283208",
"hgnc_id": null,
"hgvs_c": "c.566-23622C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000638147.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MYCBP2-AS1",
"hgnc_id": 41023,
"hgvs_c": "n.357-23622C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000636737.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP3",
"acmg_score": 5,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8194,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7736502885818481,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4678,
"aa_ref": "R",
"aa_start": 4557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15077,
"cdna_start": 13989,
"cds_end": null,
"cds_length": 14037,
"cds_start": 13670,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 81,
"exon_rank_end": null,
"feature": "NM_015057.5",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13670G>T",
"hgvs_p": "p.Arg4557Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000544440.7",
"protein_coding": true,
"protein_id": "NP_055872.4",
"strand": false,
"transcript": "NM_015057.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4678,
"aa_ref": "R",
"aa_start": 4557,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15077,
"cdna_start": 13989,
"cds_end": null,
"cds_length": 14037,
"cds_start": 13670,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 81,
"exon_rank_end": null,
"feature": "ENST00000544440.7",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13670G>T",
"hgvs_p": "p.Arg4557Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015057.5",
"protein_coding": true,
"protein_id": "ENSP00000444596.2",
"strand": false,
"transcript": "ENST00000544440.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4738,
"aa_ref": "R",
"aa_start": 4617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15257,
"cdna_start": 14169,
"cds_end": null,
"cds_length": 14217,
"cds_start": 13850,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "ENST00000357337.11",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13850G>T",
"hgvs_p": "p.Arg4617Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349892.6",
"strand": false,
"transcript": "ENST00000357337.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 201,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": null,
"cds_end": null,
"cds_length": 606,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638147.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283208",
"hgvs_c": "c.566-23622C>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490953.2",
"strand": true,
"transcript": "ENST00000638147.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4772,
"aa_ref": "R",
"aa_start": 4651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15359,
"cdna_start": 14271,
"cds_end": null,
"cds_length": 14319,
"cds_start": 13952,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "ENST00000683697.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13952G>T",
"hgvs_p": "p.Arg4651Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508153.1",
"strand": false,
"transcript": "ENST00000683697.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4752,
"aa_ref": "R",
"aa_start": 4631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17482,
"cdna_start": 14211,
"cds_end": null,
"cds_length": 14259,
"cds_start": 13892,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "ENST00000682321.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13892G>T",
"hgvs_p": "p.Arg4631Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508023.1",
"strand": false,
"transcript": "ENST00000682321.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4700,
"aa_ref": "R",
"aa_start": 4579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17326,
"cdna_start": 14055,
"cds_end": null,
"cds_length": 14103,
"cds_start": 13736,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "ENST00000683823.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13736G>T",
"hgvs_p": "p.Arg4579Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507196.1",
"strand": false,
"transcript": "ENST00000683823.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "R",
"aa_start": 4563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14802,
"cdna_start": 13716,
"cds_end": null,
"cds_length": 14055,
"cds_start": 13688,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 81,
"exon_rank_end": null,
"feature": "ENST00000932841.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13688G>T",
"hgvs_p": "p.Arg4563Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602900.1",
"strand": false,
"transcript": "ENST00000932841.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4665,
"aa_ref": "R",
"aa_start": 4544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17221,
"cdna_start": 13950,
"cds_end": null,
"cds_length": 13998,
"cds_start": 13631,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "ENST00000695079.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13631G>T",
"hgvs_p": "p.Arg4544Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511683.1",
"strand": false,
"transcript": "ENST00000695079.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4634,
"aa_ref": "R",
"aa_start": 4513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17128,
"cdna_start": 13857,
"cds_end": null,
"cds_length": 13905,
"cds_start": 13538,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 81,
"exon_rank_end": null,
"feature": "ENST00000684354.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13538G>T",
"hgvs_p": "p.Arg4513Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507330.1",
"strand": false,
"transcript": "ENST00000684354.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4609,
"aa_ref": "R",
"aa_start": 4488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14539,
"cdna_start": 13463,
"cds_end": null,
"cds_length": 13830,
"cds_start": 13463,
"consequences": [
"missense_variant"
],
"exon_count": 82,
"exon_rank": 80,
"exon_rank_end": null,
"feature": "ENST00000695080.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13463G>T",
"hgvs_p": "p.Arg4488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511684.1",
"strand": false,
"transcript": "ENST00000695080.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4537,
"aa_ref": "R",
"aa_start": 4416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14323,
"cdna_start": 13247,
"cds_end": null,
"cds_length": 13614,
"cds_start": 13247,
"consequences": [
"missense_variant"
],
"exon_count": 81,
"exon_rank": 79,
"exon_rank_end": null,
"feature": "ENST00000695081.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.13247G>T",
"hgvs_p": "p.Arg4416Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511685.1",
"strand": false,
"transcript": "ENST00000695081.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "R",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 2817,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2816,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000429715.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "c.2816G>T",
"hgvs_p": "p.Arg939Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413907.1",
"strand": false,
"transcript": "ENST00000429715.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 75,
"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": 228,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638101.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283208",
"hgvs_c": "c.170-46029C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490535.1",
"strand": true,
"transcript": "ENST00000638101.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 70,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": null,
"cds_end": null,
"cds_length": 213,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635838.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283208",
"hgvs_c": "c.173-23622C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490835.1",
"strand": true,
"transcript": "ENST00000635838.1",
"transcript_support_level": 5
},
{
"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": 15315,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 56,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000695078.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "n.12044G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000695078.1",
"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": 1861,
"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": "ENST00000695082.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "n.805G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000695082.1",
"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": 4922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000695083.1",
"gene_hgnc_id": 23386,
"gene_symbol": "MYCBP2",
"hgvs_c": "n.3894G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000695083.1",
"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": 724,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000461131.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283208",
"hgvs_c": "n.295-23622C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000461131.2",
"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": 1559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636737.1",
"gene_hgnc_id": 41023,
"gene_symbol": "MYCBP2-AS1",
"hgvs_c": "n.357-23622C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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