← 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: 13-47973310-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=47973310&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 47973310,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000646932.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Glu206Gly",
"transcript": "NM_003850.3",
"protein_id": "NP_003841.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 463,
"cds_start": 617,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "ENST00000646932.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Glu206Gly",
"transcript": "ENST00000646932.1",
"protein_id": "ENSP00000494360.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 463,
"cds_start": 617,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "NM_003850.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Glu206Gly",
"transcript": "ENST00000643023.1",
"protein_id": "ENSP00000495664.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 484,
"cds_start": 617,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Glu148Gly",
"transcript": "ENST00000642944.1",
"protein_id": "ENSP00000495674.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 405,
"cds_start": 443,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Glu148Gly",
"transcript": "ENST00000646804.1",
"protein_id": "ENSP00000493977.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 405,
"cds_start": 443,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Glu136Gly",
"transcript": "ENST00000434484.5",
"protein_id": "ENSP00000392771.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 297,
"cds_start": 407,
"cds_end": null,
"cds_length": 894,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Glu206Gly",
"transcript": "ENST00000646602.1",
"protein_id": "ENSP00000495250.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 224,
"cds_start": 617,
"cds_end": null,
"cds_length": 675,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Glu206Gly",
"transcript": "ENST00000644338.1",
"protein_id": "ENSP00000494723.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 221,
"cds_start": 617,
"cds_end": null,
"cds_length": 666,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Glu58Gly",
"transcript": "ENST00000433022.1",
"protein_id": "ENSP00000415091.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 153,
"cds_start": 173,
"cds_end": null,
"cds_length": 463,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 467,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.*300A>G",
"hgvs_p": null,
"transcript": "ENST00000497202.6",
"protein_id": "ENSP00000489175.1",
"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": 902,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.89A>G",
"hgvs_p": null,
"transcript": "ENST00000634878.2",
"protein_id": "ENSP00000489542.1",
"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": 830,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.617A>G",
"hgvs_p": null,
"transcript": "ENST00000643584.1",
"protein_id": "ENSP00000494987.1",
"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": 3317,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.*410A>G",
"hgvs_p": null,
"transcript": "ENST00000647361.1",
"protein_id": "ENSP00000494607.1",
"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": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.*300A>G",
"hgvs_p": null,
"transcript": "ENST00000497202.6",
"protein_id": "ENSP00000489175.1",
"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": 902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.*410A>G",
"hgvs_p": null,
"transcript": "ENST00000647361.1",
"protein_id": "ENSP00000494607.1",
"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": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"dbsnp": "rs141647723",
"frequency_reference_population": 0.0012345342,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1992,
"gnomad_exomes_af": 0.00128999,
"gnomad_genomes_af": 0.000702524,
"gnomad_exomes_ac": 1885,
"gnomad_genomes_ac": 107,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09550121426582336,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.372,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.856,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000646932.1",
"gene_symbol": "SUCLA2",
"hgnc_id": 11448,
"effects": [
"missense_variant"
],
"inheritance_mode": "Mitochondrial,AR",
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Glu206Gly"
}
],
"clinvar_disease": " encephalomyopathic form with methylmalonic aciduria,Inborn genetic diseases,Mitochondrial DNA depletion syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"phenotype_combined": "Inborn genetic diseases|Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}