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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: 16-89114436-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89114436&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89114436,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000614302.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "NM_001243279.3",
"protein_id": "NP_001230208.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 576,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": "ENST00000614302.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "ENST00000614302.5",
"protein_id": "ENSP00000479130.1",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 576,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": "NM_001243279.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Glu94Lys",
"transcript": "ENST00000378345.8",
"protein_id": "ENSP00000367596.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 311,
"cds_start": 280,
"cds_end": null,
"cds_length": 936,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "NM_001127214.4",
"protein_id": "NP_001120686.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 576,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "NM_174917.5",
"protein_id": "NP_777577.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 576,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "ENST00000317447.9",
"protein_id": "ENSP00000320646.4",
"transcript_support_level": 2,
"aa_start": 359,
"aa_end": null,
"aa_length": 576,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "ENST00000406948.7",
"protein_id": "ENSP00000384627.3",
"transcript_support_level": 2,
"aa_start": 359,
"aa_end": null,
"aa_length": 576,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Glu94Lys",
"transcript": "NM_001284316.2",
"protein_id": "NP_001271245.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 311,
"cds_start": 280,
"cds_end": null,
"cds_length": 936,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Glu94Lys",
"transcript": "ENST00000544543.5",
"protein_id": "ENSP00000442781.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 234,
"cds_start": 280,
"cds_end": null,
"cds_length": 705,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Glu94Lys",
"transcript": "ENST00000540697.5",
"protein_id": "ENSP00000445397.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 189,
"cds_start": 280,
"cds_end": null,
"cds_length": 571,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.316G>A",
"hgvs_p": "p.Glu106Lys",
"transcript": "ENST00000543676.1",
"protein_id": "ENSP00000442683.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 182,
"cds_start": 316,
"cds_end": null,
"cds_length": 549,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Glu94Lys",
"transcript": "ENST00000537895.5",
"protein_id": "ENSP00000439201.1",
"transcript_support_level": 4,
"aa_start": 94,
"aa_end": null,
"aa_length": 104,
"cds_start": 280,
"cds_end": null,
"cds_length": 317,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 550,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261546",
"gene_hgnc_id": null,
"hgvs_c": "n.844C>T",
"hgvs_p": null,
"transcript": "ENST00000562782.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "n.1075G>A",
"hgvs_p": null,
"transcript": "ENST00000649953.1",
"protein_id": "ENSP00000497456.1",
"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": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "n.1413G>A",
"hgvs_p": null,
"transcript": "NR_104293.2",
"protein_id": null,
"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": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "n.1413G>A",
"hgvs_p": null,
"transcript": "NR_147928.2",
"protein_id": null,
"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": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "c.302+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000538340.5",
"protein_id": "ENSP00000445870.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "n.977+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000542688.5",
"protein_id": "ENSP00000446281.1",
"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": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "n.46+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000562204.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"hgvs_c": "n.1315+2190G>A",
"hgvs_p": null,
"transcript": "NR_147929.2",
"protein_id": null,
"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": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACSF3",
"gene_hgnc_id": 27288,
"dbsnp": "rs150487794",
"frequency_reference_population": 0.0011248322,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1815,
"gnomad_exomes_af": 0.00116749,
"gnomad_genomes_af": 0.000715627,
"gnomad_exomes_ac": 1706,
"gnomad_genomes_ac": 109,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4987756907939911,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.936,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9621,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.896,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM5",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000614302.5",
"gene_symbol": "ACSF3",
"hgnc_id": 27288,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000562782.1",
"gene_symbol": "ENSG00000261546",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.844C>T",
"hgvs_p": null
}
],
"clinvar_disease": "ACSF3-related disorder,Combined malonic and methylmalonic acidemia,Inborn genetic diseases,Methylmalonic acidemia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:7 LP:3 US:1",
"phenotype_combined": "not provided|Combined malonic and methylmalonic acidemia|Methylmalonic acidemia|Inborn genetic diseases|ACSF3-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}