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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: 19-18893568-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18893568&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18893568,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000623882.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "NM_021267.5",
"protein_id": "NP_067090.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 350,
"cds_start": 257,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": "ENST00000623882.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "ENST00000623882.4",
"protein_id": "ENSP00000485308.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 350,
"cds_start": 257,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": "NM_021267.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "ENST00000429504.6",
"protein_id": "ENSP00000389044.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 337,
"cds_start": 257,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF1",
"gene_hgnc_id": 4214,
"hgvs_c": "c.-1066C>T",
"hgvs_p": null,
"transcript": "NM_001492.6",
"protein_id": "NP_001483.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": "ENST00000247005.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF1",
"gene_hgnc_id": 4214,
"hgvs_c": "c.-1066C>T",
"hgvs_p": null,
"transcript": "ENST00000247005.8",
"protein_id": "ENSP00000247005.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": "NM_001492.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.-38C>T",
"hgvs_p": null,
"transcript": "ENST00000542296.6",
"protein_id": "ENSP00000437648.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "NM_001387439.1",
"protein_id": "NP_001374368.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 363,
"cds_start": 257,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "NM_001387440.1",
"protein_id": "NP_001374369.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 350,
"cds_start": 257,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "NM_198207.3",
"protein_id": "NP_937850.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 337,
"cds_start": 257,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "NM_001387441.1",
"protein_id": "NP_001374370.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 322,
"cds_start": 257,
"cds_end": null,
"cds_length": 969,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF1",
"gene_hgnc_id": 4214,
"hgvs_c": "c.-646C>T",
"hgvs_p": null,
"transcript": "NM_001387438.1",
"protein_id": "NP_001374367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.-38C>T",
"hgvs_p": null,
"transcript": "NM_001387442.1",
"protein_id": "NP_001374371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.-38C>T",
"hgvs_p": null,
"transcript": "NM_001387443.1",
"protein_id": "NP_001374372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.-38C>T",
"hgvs_p": null,
"transcript": "NM_001290265.2",
"protein_id": "NP_001277194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.-38C>T",
"hgvs_p": null,
"transcript": "NM_001387444.1",
"protein_id": "NP_001374373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"hgvs_c": "c.-38C>T",
"hgvs_p": null,
"transcript": "NM_001387445.1",
"protein_id": "NP_001374374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CERS1",
"gene_hgnc_id": 14253,
"dbsnp": "rs374895377",
"frequency_reference_population": 0.00031535147,
"hom_count_reference_population": 1,
"allele_count_reference_population": 507,
"gnomad_exomes_af": 0.000330443,
"gnomad_genomes_af": 0.000170931,
"gnomad_exomes_ac": 481,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5831491351127625,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.6588,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.726,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000623882.4",
"gene_symbol": "CERS1",
"hgnc_id": 14253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000247005.8",
"gene_symbol": "GDF1",
"hgnc_id": 4214,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.-1066C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Progressive myoclonic epilepsy type 8,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Progressive myoclonic epilepsy type 8|not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}