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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: 12-15956986-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=15956986&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 15956986,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015954.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser",
"transcript": "NM_015954.4",
"protein_id": "NP_057038.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 318,
"cds_start": 82,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428559.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015954.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser",
"transcript": "ENST00000428559.7",
"protein_id": "ENSP00000416583.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 318,
"cds_start": 82,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015954.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428559.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.-183C>A",
"hgvs_p": null,
"transcript": "ENST00000526530.1",
"protein_id": "ENSP00000431757.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526530.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser",
"transcript": "ENST00000885123.1",
"protein_id": "ENSP00000555182.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 316,
"cds_start": 82,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885123.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser",
"transcript": "ENST00000885125.1",
"protein_id": "ENSP00000555184.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 312,
"cds_start": 82,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885125.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser",
"transcript": "ENST00000885124.1",
"protein_id": "ENSP00000555183.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 295,
"cds_start": 82,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885124.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser",
"transcript": "NM_001300779.2",
"protein_id": "NP_001287708.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 275,
"cds_start": 82,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300779.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser",
"transcript": "ENST00000532964.5",
"protein_id": "ENSP00000436999.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 275,
"cds_start": 82,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532964.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser",
"transcript": "ENST00000954121.1",
"protein_id": "ENSP00000624180.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 268,
"cds_start": 82,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954121.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000531803.5",
"protein_id": "ENSP00000433051.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 235,
"cds_start": 145,
"cds_end": null,
"cds_length": 710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531803.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.-183C>A",
"hgvs_p": null,
"transcript": "ENST00000533447.5",
"protein_id": "ENSP00000434973.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533447.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.-183C>A",
"hgvs_p": null,
"transcript": "ENST00000524480.5",
"protein_id": "ENSP00000432633.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": null,
"cds_end": null,
"cds_length": 295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524480.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.-183C>A",
"hgvs_p": null,
"transcript": "XM_024449001.2",
"protein_id": "XP_024304769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449001.2"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "c.32-25322C>A",
"hgvs_p": null,
"transcript": "ENST00000885122.1",
"protein_id": "ENSP00000555181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"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": "ENST00000885122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "n.82C>A",
"hgvs_p": null,
"transcript": "ENST00000526521.5",
"protein_id": "ENSP00000435683.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526521.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"hgvs_c": "n.82C>A",
"hgvs_p": null,
"transcript": "ENST00000528821.5",
"protein_id": "ENSP00000433801.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528821.5"
}
],
"gene_symbol": "DERA",
"gene_hgnc_id": 24269,
"dbsnp": "rs374442153",
"frequency_reference_population": 0.0000027366707,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273667,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5497859120368958,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.343,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.368,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015954.4",
"gene_symbol": "DERA",
"hgnc_id": 24269,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Arg28Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}