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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: 11-46379558-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46379558&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46379558,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000456247.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2660C>G",
"hgvs_p": "p.Thr887Arg",
"transcript": "NM_001199267.2",
"protein_id": "NP_001186196.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 928,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": "ENST00000456247.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2660C>G",
"hgvs_p": "p.Thr887Arg",
"transcript": "ENST00000456247.7",
"protein_id": "ENSP00000395684.2",
"transcript_support_level": 1,
"aa_start": 887,
"aa_end": null,
"aa_length": 928,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": "NM_001199267.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.3227C>G",
"hgvs_p": "p.Thr1076Arg",
"transcript": "ENST00000454345.6",
"protein_id": "ENSP00000412178.1",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3341,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2678C>G",
"hgvs_p": "p.Thr893Arg",
"transcript": "ENST00000527911.5",
"protein_id": "ENSP00000436291.1",
"transcript_support_level": 1,
"aa_start": 893,
"aa_end": null,
"aa_length": 934,
"cds_start": 2678,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2663C>G",
"hgvs_p": "p.Thr888Arg",
"transcript": "ENST00000421244.6",
"protein_id": "ENSP00000391021.2",
"transcript_support_level": 1,
"aa_start": 888,
"aa_end": null,
"aa_length": 929,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.2948C>G",
"hgvs_p": null,
"transcript": "ENST00000527211.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.3227C>G",
"hgvs_p": "p.Thr1076Arg",
"transcript": "NM_001105540.2",
"protein_id": "NP_001099010.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3341,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2711C>G",
"hgvs_p": "p.Thr904Arg",
"transcript": "NM_201532.3",
"protein_id": "NP_963290.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 945,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2711C>G",
"hgvs_p": "p.Thr904Arg",
"transcript": "ENST00000343674.10",
"protein_id": "ENSP00000343065.6",
"transcript_support_level": 2,
"aa_start": 904,
"aa_end": null,
"aa_length": 945,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2678C>G",
"hgvs_p": "p.Thr893Arg",
"transcript": "NM_001199266.2",
"protein_id": "NP_001186195.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 934,
"cds_start": 2678,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2675C>G",
"hgvs_p": "p.Thr892Arg",
"transcript": "NM_201533.3",
"protein_id": "NP_963291.2",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 933,
"cds_start": 2675,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2675C>G",
"hgvs_p": "p.Thr892Arg",
"transcript": "ENST00000532868.6",
"protein_id": "ENSP00000436273.2",
"transcript_support_level": 2,
"aa_start": 892,
"aa_end": null,
"aa_length": 933,
"cds_start": 2675,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2663C>G",
"hgvs_p": "p.Thr888Arg",
"transcript": "NM_003646.4",
"protein_id": "NP_003637.2",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 929,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2594C>G",
"hgvs_p": "p.Thr865Arg",
"transcript": "NM_001199268.2",
"protein_id": "NP_001186197.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 906,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2791,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.2594C>G",
"hgvs_p": "p.Thr865Arg",
"transcript": "ENST00000318201.12",
"protein_id": "ENSP00000320340.8",
"transcript_support_level": 2,
"aa_start": 865,
"aa_end": null,
"aa_length": 906,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.1997C>G",
"hgvs_p": "p.Thr666Arg",
"transcript": "ENST00000528615.5",
"protein_id": "ENSP00000434719.1",
"transcript_support_level": 5,
"aa_start": 666,
"aa_end": null,
"aa_length": 707,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2402,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.*2280C>G",
"hgvs_p": null,
"transcript": "ENST00000524984.5",
"protein_id": "ENSP00000437060.1",
"transcript_support_level": 2,
"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": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.5004C>G",
"hgvs_p": null,
"transcript": "ENST00000528173.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 5737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.483C>G",
"hgvs_p": null,
"transcript": "ENST00000529660.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.1268C>G",
"hgvs_p": null,
"transcript": "ENST00000534802.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.*2280C>G",
"hgvs_p": null,
"transcript": "ENST00000524984.5",
"protein_id": "ENSP00000437060.1",
"transcript_support_level": 2,
"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": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"dbsnp": "rs76583617",
"frequency_reference_population": 0.0058461833,
"hom_count_reference_population": 42,
"allele_count_reference_population": 9407,
"gnomad_exomes_af": 0.00601009,
"gnomad_genomes_af": 0.00427911,
"gnomad_exomes_ac": 8755,
"gnomad_genomes_ac": 652,
"gnomad_exomes_homalt": 39,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015302598476409912,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.566,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4404,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.071,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000456247.7",
"gene_symbol": "DGKZ",
"hgnc_id": 2857,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2660C>G",
"hgvs_p": "p.Thr887Arg"
}
],
"clinvar_disease": "atypical cerebral palsy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "atypical cerebral palsy|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}