← 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: 10-133362909-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133362909&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133362909,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004092.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Ala278Thr",
"transcript": "NM_004092.4",
"protein_id": "NP_004083.3",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 290,
"cds_start": 832,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368547.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004092.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Ala278Thr",
"transcript": "ENST00000368547.4",
"protein_id": "ENSP00000357535.3",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 290,
"cds_start": 832,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004092.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368547.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Ala350Thr",
"transcript": "ENST00000857570.1",
"protein_id": "ENSP00000527629.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 362,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857570.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Ala339Thr",
"transcript": "ENST00000970368.1",
"protein_id": "ENSP00000640427.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 351,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970368.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Ala289Thr",
"transcript": "ENST00000857564.1",
"protein_id": "ENSP00000527623.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 301,
"cds_start": 865,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857564.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Ala287Thr",
"transcript": "ENST00000857569.1",
"protein_id": "ENSP00000527628.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 299,
"cds_start": 859,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857569.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Ala287Thr",
"transcript": "ENST00000857571.1",
"protein_id": "ENSP00000527630.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 299,
"cds_start": 859,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857571.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000857572.1",
"protein_id": "ENSP00000527631.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 288,
"cds_start": 826,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857572.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000857573.1",
"protein_id": "ENSP00000527632.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 288,
"cds_start": 826,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857573.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000935006.1",
"protein_id": "ENSP00000605065.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 283,
"cds_start": 811,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935006.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.805G>A",
"hgvs_p": "p.Ala269Thr",
"transcript": "ENST00000857567.1",
"protein_id": "ENSP00000527626.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 281,
"cds_start": 805,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857567.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Ala265Thr",
"transcript": "ENST00000857566.1",
"protein_id": "ENSP00000527625.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 277,
"cds_start": 793,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857566.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "ENST00000857565.1",
"protein_id": "ENSP00000527624.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 250,
"cds_start": 712,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857565.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Ala212Thr",
"transcript": "ENST00000857568.1",
"protein_id": "ENSP00000527627.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 224,
"cds_start": 634,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857568.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Ala202Thr",
"transcript": "ENST00000935007.1",
"protein_id": "ENSP00000605066.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 214,
"cds_start": 604,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935007.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"transcript": "ENST00000857574.1",
"protein_id": "ENSP00000527633.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 159,
"cds_start": 439,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"hgvs_c": "c.718-21G>A",
"hgvs_p": null,
"transcript": "ENST00000935008.1",
"protein_id": "ENSP00000605067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935008.1"
}
],
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"dbsnp": "rs933592081",
"frequency_reference_population": 0.000009293588,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000820905,
"gnomad_genomes_af": 0.0000197091,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.926749587059021,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.389,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7861,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.544,
"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,PM2,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_004092.4",
"gene_symbol": "ECHS1",
"hgnc_id": 3151,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Ala278Thr"
}
],
"clinvar_disease": "Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}