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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: 12-98699486-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=98699486&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 98699486,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000551964.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Glu795Gln",
"transcript": "NM_181861.2",
"protein_id": "NP_863651.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 7201,
"mane_select": "ENST00000551964.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Glu795Gln",
"transcript": "ENST00000551964.6",
"protein_id": "ENSP00000448165.2",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 7201,
"mane_select": "NM_181861.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000550527.5",
"protein_id": "ENSP00000448449.1",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Glu795Gln",
"transcript": "ENST00000547045.5",
"protein_id": "ENSP00000449791.1",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 1205,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 2388,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000359972.6",
"protein_id": "ENSP00000353059.2",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 7029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Glu795Gln",
"transcript": "ENST00000549007.1",
"protein_id": "ENSP00000448161.1",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.956-32934G>C",
"hgvs_p": null,
"transcript": "ENST00000552268.5",
"protein_id": "ENSP00000448826.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": -4,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Glu795Gln",
"transcript": "ENST00000715693.1",
"protein_id": "ENSP00000520503.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 7269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "NM_013229.3",
"protein_id": "NP_037361.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 7168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Glu795Gln",
"transcript": "NM_181868.2",
"protein_id": "NP_863658.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1205,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Glu795Gln",
"transcript": "ENST00000357310.5",
"protein_id": "ENSP00000349862.1",
"transcript_support_level": 5,
"aa_start": 795,
"aa_end": null,
"aa_length": 1205,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 2960,
"cdna_end": null,
"cdna_length": 7055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "NM_001160.3",
"protein_id": "NP_001151.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 7039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.1168G>C",
"hgvs_p": "p.Glu390Gln",
"transcript": "XM_047428758.1",
"protein_id": "XP_047284714.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 843,
"cds_start": 1168,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.*33G>C",
"hgvs_p": null,
"transcript": "XM_047428759.1",
"protein_id": "XP_047284715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": -4,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.956-32934G>C",
"hgvs_p": null,
"transcript": "NM_181869.2",
"protein_id": "NP_863659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": -4,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "c.956-32934G>C",
"hgvs_p": null,
"transcript": "ENST00000333991.5",
"protein_id": "ENSP00000334558.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": -4,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"hgvs_c": "n.-10G>C",
"hgvs_p": null,
"transcript": "ENST00000546491.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APAF1",
"gene_hgnc_id": 576,
"dbsnp": "rs181546874",
"frequency_reference_population": 0.0001245222,
"hom_count_reference_population": 0,
"allele_count_reference_population": 201,
"gnomad_exomes_af": 0.000123132,
"gnomad_genomes_af": 0.000137859,
"gnomad_exomes_ac": 180,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007296383380889893,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.1193,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.377,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000551964.6",
"gene_symbol": "APAF1",
"hgnc_id": 576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Glu795Gln"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}