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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: 10-133369904-GG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133369904&ref=GG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ECHS1",
"hgnc_id": 3151,
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_004092.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": 435,
"cds_end": null,
"cds_length": 873,
"cds_start": 413,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004092.4",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368547.4",
"protein_coding": true,
"protein_id": "NP_004083.3",
"strand": false,
"transcript": "NM_004092.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": 435,
"cds_end": null,
"cds_length": 873,
"cds_start": 413,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368547.4",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004092.4",
"protein_coding": true,
"protein_id": "ENSP00000357535.3",
"strand": false,
"transcript": "ENST00000368547.4",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1089,
"cds_start": 629,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857570.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.629_630delCCinsTG",
"hgvs_p": "p.Ala210Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527629.1",
"strand": false,
"transcript": "ENST00000857570.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 351,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1056,
"cds_start": 596,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970368.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.596_597delCCinsTG",
"hgvs_p": "p.Ala199Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640427.1",
"strand": false,
"transcript": "ENST00000970368.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 301,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 795,
"cds_end": null,
"cds_length": 906,
"cds_start": 413,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857564.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527623.1",
"strand": false,
"transcript": "ENST00000857564.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 462,
"cds_end": null,
"cds_length": 900,
"cds_start": 440,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857569.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.440_441delCCinsTG",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527628.1",
"strand": false,
"transcript": "ENST00000857569.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1304,
"cdna_start": 436,
"cds_end": null,
"cds_length": 900,
"cds_start": 413,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857571.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527630.1",
"strand": false,
"transcript": "ENST00000857571.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 288,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": 429,
"cds_end": null,
"cds_length": 867,
"cds_start": 407,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857573.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.407_408delCCinsTG",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527632.1",
"strand": false,
"transcript": "ENST00000857573.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 283,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1272,
"cdna_start": 446,
"cds_end": null,
"cds_length": 852,
"cds_start": 413,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935006.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605065.1",
"strand": false,
"transcript": "ENST00000935006.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 416,
"cds_end": null,
"cds_length": 846,
"cds_start": 386,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857567.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.386_387delCCinsTG",
"hgvs_p": "p.Ala129Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527626.1",
"strand": false,
"transcript": "ENST00000857567.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 250,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 464,
"cds_end": null,
"cds_length": 753,
"cds_start": 413,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857565.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527624.1",
"strand": false,
"transcript": "ENST00000857565.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 245,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1142,
"cdna_start": 435,
"cds_end": null,
"cds_length": 738,
"cds_start": 413,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935008.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605067.1",
"strand": false,
"transcript": "ENST00000935008.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 224,
"aa_ref": "A",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 237,
"cds_end": null,
"cds_length": 675,
"cds_start": 215,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857568.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.215_216delCCinsTG",
"hgvs_p": "p.Ala72Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527627.1",
"strand": false,
"transcript": "ENST00000857568.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 159,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 880,
"cdna_start": 435,
"cds_end": null,
"cds_length": 480,
"cds_start": 413,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857574.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.413_414delCCinsTG",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527633.1",
"strand": false,
"transcript": "ENST00000857574.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": null,
"cds_end": null,
"cds_length": 867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857572.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.375+38_375+39delCCinsTG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527631.1",
"strand": false,
"transcript": "ENST00000857572.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1279,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857566.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.375+38_375+39delCCinsTG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527625.1",
"strand": false,
"transcript": "ENST00000857566.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 214,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": null,
"cds_end": null,
"cds_length": 645,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935007.1",
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"hgvs_c": "c.286+655_286+656delCCinsTG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605066.1",
"strand": false,
"transcript": "ENST00000935007.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3151,
"gene_symbol": "ECHS1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.358,
"pos": 133369904,
"ref": "GG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_004092.4"
}
]
}