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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: 12-120739356-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120739356&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120739356,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000017.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Cys",
"transcript": "NM_000017.4",
"protein_id": "NP_000008.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 412,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242592.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000017.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Cys",
"transcript": "ENST00000242592.9",
"protein_id": "ENSP00000242592.4",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 412,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000017.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242592.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Cys",
"transcript": "ENST00000946559.1",
"protein_id": "ENSP00000616618.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 412,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946559.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382Cys",
"transcript": "ENST00000893619.1",
"protein_id": "ENSP00000563678.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 411,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893619.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "ENST00000946560.1",
"protein_id": "ENSP00000616619.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 410,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946560.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "ENST00000946561.1",
"protein_id": "ENSP00000616620.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 410,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946561.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380Cys",
"transcript": "ENST00000893621.1",
"protein_id": "ENSP00000563680.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 409,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893621.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "NM_001302554.2",
"protein_id": "NP_001289483.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 408,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302554.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "ENST00000411593.2",
"protein_id": "ENSP00000401045.2",
"transcript_support_level": 2,
"aa_start": 379,
"aa_end": null,
"aa_length": 408,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411593.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Arg372Cys",
"transcript": "ENST00000893620.1",
"protein_id": "ENSP00000563679.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 401,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893620.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370Cys",
"transcript": "ENST00000893622.1",
"protein_id": "ENSP00000563681.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 399,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893622.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.1009C>T",
"hgvs_p": "p.Arg337Cys",
"transcript": "ENST00000893623.1",
"protein_id": "ENSP00000563682.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 366,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893623.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "ENST00000936845.1",
"protein_id": "ENSP00000606904.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 324,
"cds_start": 883,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936845.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Arg245Cys",
"transcript": "ENST00000936844.1",
"protein_id": "ENSP00000606903.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 274,
"cds_start": 733,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255946",
"gene_hgnc_id": null,
"hgvs_c": "n.305-9068G>A",
"hgvs_p": null,
"transcript": "ENST00000724268.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000724268.1"
}
],
"gene_symbol": "ACADS",
"gene_hgnc_id": 90,
"dbsnp": "rs28940872",
"frequency_reference_population": 0.00007501578,
"hom_count_reference_population": 0,
"allele_count_reference_population": 121,
"gnomad_exomes_af": 0.0000739384,
"gnomad_genomes_af": 0.0000853478,
"gnomad_exomes_ac": 108,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9647216200828552,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.952,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8452,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.503,
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM1",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000017.4",
"gene_symbol": "ACADS",
"hgnc_id": 90,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Cys"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000724268.1",
"gene_symbol": "ENSG00000255946",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.305-9068G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Deficiency of butyryl-CoA dehydrogenase,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:2",
"phenotype_combined": "not provided|Deficiency of butyryl-CoA dehydrogenase",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}