← Back to variant description
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: 13-77051866-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77051866&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 77051866,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015057.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13700A>G",
"hgvs_p": "p.Asp4567Gly",
"transcript": "NM_015057.5",
"protein_id": "NP_055872.4",
"transcript_support_level": null,
"aa_start": 4567,
"aa_end": null,
"aa_length": 4678,
"cds_start": 13700,
"cds_end": null,
"cds_length": 14037,
"cdna_start": 14019,
"cdna_end": null,
"cdna_length": 15077,
"mane_select": "ENST00000544440.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015057.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13700A>G",
"hgvs_p": "p.Asp4567Gly",
"transcript": "ENST00000544440.7",
"protein_id": "ENSP00000444596.2",
"transcript_support_level": 1,
"aa_start": 4567,
"aa_end": null,
"aa_length": 4678,
"cds_start": 13700,
"cds_end": null,
"cds_length": 14037,
"cdna_start": 14019,
"cdna_end": null,
"cdna_length": 15077,
"mane_select": "NM_015057.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544440.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13880A>G",
"hgvs_p": "p.Asp4627Gly",
"transcript": "ENST00000357337.11",
"protein_id": "ENSP00000349892.6",
"transcript_support_level": 1,
"aa_start": 4627,
"aa_end": null,
"aa_length": 4738,
"cds_start": 13880,
"cds_end": null,
"cds_length": 14217,
"cdna_start": 14199,
"cdna_end": null,
"cdna_length": 15257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357337.11"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.566-23652T>C",
"hgvs_p": null,
"transcript": "ENST00000638147.2",
"protein_id": "ENSP00000490953.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638147.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13982A>G",
"hgvs_p": "p.Asp4661Gly",
"transcript": "ENST00000683697.1",
"protein_id": "ENSP00000508153.1",
"transcript_support_level": null,
"aa_start": 4661,
"aa_end": null,
"aa_length": 4772,
"cds_start": 13982,
"cds_end": null,
"cds_length": 14319,
"cdna_start": 14301,
"cdna_end": null,
"cdna_length": 15359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683697.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13922A>G",
"hgvs_p": "p.Asp4641Gly",
"transcript": "ENST00000682321.1",
"protein_id": "ENSP00000508023.1",
"transcript_support_level": null,
"aa_start": 4641,
"aa_end": null,
"aa_length": 4752,
"cds_start": 13922,
"cds_end": null,
"cds_length": 14259,
"cdna_start": 14241,
"cdna_end": null,
"cdna_length": 17482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682321.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13766A>G",
"hgvs_p": "p.Asp4589Gly",
"transcript": "ENST00000683823.1",
"protein_id": "ENSP00000507196.1",
"transcript_support_level": null,
"aa_start": 4589,
"aa_end": null,
"aa_length": 4700,
"cds_start": 13766,
"cds_end": null,
"cds_length": 14103,
"cdna_start": 14085,
"cdna_end": null,
"cdna_length": 17326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683823.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13718A>G",
"hgvs_p": "p.Asp4573Gly",
"transcript": "ENST00000932841.1",
"protein_id": "ENSP00000602900.1",
"transcript_support_level": null,
"aa_start": 4573,
"aa_end": null,
"aa_length": 4684,
"cds_start": 13718,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 13746,
"cdna_end": null,
"cdna_length": 14802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932841.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13661A>G",
"hgvs_p": "p.Asp4554Gly",
"transcript": "ENST00000695079.1",
"protein_id": "ENSP00000511683.1",
"transcript_support_level": null,
"aa_start": 4554,
"aa_end": null,
"aa_length": 4665,
"cds_start": 13661,
"cds_end": null,
"cds_length": 13998,
"cdna_start": 13980,
"cdna_end": null,
"cdna_length": 17221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695079.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13568A>G",
"hgvs_p": "p.Asp4523Gly",
"transcript": "ENST00000684354.1",
"protein_id": "ENSP00000507330.1",
"transcript_support_level": null,
"aa_start": 4523,
"aa_end": null,
"aa_length": 4634,
"cds_start": 13568,
"cds_end": null,
"cds_length": 13905,
"cdna_start": 13887,
"cdna_end": null,
"cdna_length": 17128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684354.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 82,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13493A>G",
"hgvs_p": "p.Asp4498Gly",
"transcript": "ENST00000695080.1",
"protein_id": "ENSP00000511684.1",
"transcript_support_level": null,
"aa_start": 4498,
"aa_end": null,
"aa_length": 4609,
"cds_start": 13493,
"cds_end": null,
"cds_length": 13830,
"cdna_start": 13493,
"cdna_end": null,
"cdna_length": 14539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695080.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13277A>G",
"hgvs_p": "p.Asp4426Gly",
"transcript": "ENST00000695081.1",
"protein_id": "ENSP00000511685.1",
"transcript_support_level": null,
"aa_start": 4426,
"aa_end": null,
"aa_length": 4537,
"cds_start": 13277,
"cds_end": null,
"cds_length": 13614,
"cdna_start": 13277,
"cdna_end": null,
"cdna_length": 14323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695081.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.2846A>G",
"hgvs_p": "p.Asp949Gly",
"transcript": "ENST00000429715.1",
"protein_id": "ENSP00000413907.1",
"transcript_support_level": 2,
"aa_start": 949,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429715.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.170-46059T>C",
"hgvs_p": null,
"transcript": "ENST00000638101.1",
"protein_id": "ENSP00000490535.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638101.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.173-23652T>C",
"hgvs_p": null,
"transcript": "ENST00000635838.1",
"protein_id": "ENSP00000490835.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": null,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.12074A>G",
"hgvs_p": null,
"transcript": "ENST00000695078.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15315,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.835A>G",
"hgvs_p": null,
"transcript": "ENST00000695082.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695082.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.3924A>G",
"hgvs_p": null,
"transcript": "ENST00000695083.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "n.295-23652T>C",
"hgvs_p": null,
"transcript": "ENST00000461131.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461131.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2-AS1",
"gene_hgnc_id": 41023,
"hgvs_c": "n.357-23652T>C",
"hgvs_p": null,
"transcript": "ENST00000636737.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000636737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "n.211+55739T>C",
"hgvs_p": null,
"transcript": "ENST00000637192.1",
"protein_id": "ENSP00000489931.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637192.1"
}
],
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"dbsnp": null,
"frequency_reference_population": 0.0000013680976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5859898924827576,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.264,
"revel_prediction": "Benign",
"alphamissense_score": 0.2675,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.459,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015057.5",
"gene_symbol": "MYCBP2",
"hgnc_id": 23386,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.13700A>G",
"hgvs_p": "p.Asp4567Gly"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000638147.2",
"gene_symbol": "ENSG00000283208",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.566-23652T>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000636737.1",
"gene_symbol": "MYCBP2-AS1",
"hgnc_id": 41023,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.357-23652T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}