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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: 10-133362882-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133362882&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133362882,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004092.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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.859T>C",
"hgvs_p": "p.Phe287Leu",
"transcript": "NM_004092.4",
"protein_id": "NP_004083.3",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 290,
"cds_start": 859,
"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": "F",
"aa_alt": "L",
"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.859T>C",
"hgvs_p": "p.Phe287Leu",
"transcript": "ENST00000368547.4",
"protein_id": "ENSP00000357535.3",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 290,
"cds_start": 859,
"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": "F",
"aa_alt": "L",
"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.1075T>C",
"hgvs_p": "p.Phe359Leu",
"transcript": "ENST00000857570.1",
"protein_id": "ENSP00000527629.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 362,
"cds_start": 1075,
"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": "F",
"aa_alt": "L",
"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.1042T>C",
"hgvs_p": "p.Phe348Leu",
"transcript": "ENST00000970368.1",
"protein_id": "ENSP00000640427.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 351,
"cds_start": 1042,
"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": "F",
"aa_alt": "L",
"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.892T>C",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000857564.1",
"protein_id": "ENSP00000527623.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 301,
"cds_start": 892,
"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": "F",
"aa_alt": "L",
"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.886T>C",
"hgvs_p": "p.Phe296Leu",
"transcript": "ENST00000857569.1",
"protein_id": "ENSP00000527628.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 299,
"cds_start": 886,
"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": "F",
"aa_alt": "L",
"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.886T>C",
"hgvs_p": "p.Phe296Leu",
"transcript": "ENST00000857571.1",
"protein_id": "ENSP00000527630.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 299,
"cds_start": 886,
"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": "F",
"aa_alt": "L",
"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.853T>C",
"hgvs_p": "p.Phe285Leu",
"transcript": "ENST00000857572.1",
"protein_id": "ENSP00000527631.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 288,
"cds_start": 853,
"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": "F",
"aa_alt": "L",
"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.853T>C",
"hgvs_p": "p.Phe285Leu",
"transcript": "ENST00000857573.1",
"protein_id": "ENSP00000527632.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 288,
"cds_start": 853,
"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": "F",
"aa_alt": "L",
"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.838T>C",
"hgvs_p": "p.Phe280Leu",
"transcript": "ENST00000935006.1",
"protein_id": "ENSP00000605065.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 283,
"cds_start": 838,
"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": "F",
"aa_alt": "L",
"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.832T>C",
"hgvs_p": "p.Phe278Leu",
"transcript": "ENST00000857567.1",
"protein_id": "ENSP00000527626.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 281,
"cds_start": 832,
"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": "F",
"aa_alt": "L",
"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.820T>C",
"hgvs_p": "p.Phe274Leu",
"transcript": "ENST00000857566.1",
"protein_id": "ENSP00000527625.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 277,
"cds_start": 820,
"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": "F",
"aa_alt": "L",
"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.739T>C",
"hgvs_p": "p.Phe247Leu",
"transcript": "ENST00000857565.1",
"protein_id": "ENSP00000527624.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 250,
"cds_start": 739,
"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": "F",
"aa_alt": "L",
"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.724T>C",
"hgvs_p": "p.Phe242Leu",
"transcript": "ENST00000935008.1",
"protein_id": "ENSP00000605067.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 245,
"cds_start": 724,
"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"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.661T>C",
"hgvs_p": "p.Phe221Leu",
"transcript": "ENST00000857568.1",
"protein_id": "ENSP00000527627.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 224,
"cds_start": 661,
"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": "F",
"aa_alt": "L",
"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.631T>C",
"hgvs_p": "p.Phe211Leu",
"transcript": "ENST00000935007.1",
"protein_id": "ENSP00000605066.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 214,
"cds_start": 631,
"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": "F",
"aa_alt": "L",
"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.466T>C",
"hgvs_p": "p.Phe156Leu",
"transcript": "ENST00000857574.1",
"protein_id": "ENSP00000527633.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 159,
"cds_start": 466,
"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"
}
],
"gene_symbol": "ECHS1",
"gene_hgnc_id": 3151,
"dbsnp": "rs2133437255",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8143596649169922,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.493,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9863,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.709,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004092.4",
"gene_symbol": "ECHS1",
"hgnc_id": 3151,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.859T>C",
"hgvs_p": "p.Phe287Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}