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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: 15-92941887-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=92941887&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "15",
"pos": 92941887,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001271.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Val253Ala",
"transcript": "NM_001271.4",
"protein_id": "NP_001262.3",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1828,
"cds_start": 758,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 9350,
"mane_select": "ENST00000394196.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Val253Ala",
"transcript": "ENST00000394196.9",
"protein_id": "ENSP00000377747.4",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 1828,
"cds_start": 758,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 9350,
"mane_select": "NM_001271.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Val253Ala",
"transcript": "ENST00000626874.2",
"protein_id": "ENSP00000486629.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 1739,
"cds_start": 758,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 7764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Val253Ala",
"transcript": "ENST00000420239.7",
"protein_id": "ENSP00000406581.2",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 501,
"cds_start": 758,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.464T>C",
"hgvs_p": "p.Val155Ala",
"transcript": "ENST00000625990.3",
"protein_id": "ENSP00000485890.2",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 703,
"cds_start": 464,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Val266Ala",
"transcript": "ENST00000626782.2",
"protein_id": "ENSP00000486487.1",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 514,
"cds_start": 797,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Val253Ala",
"transcript": "NM_001042572.3",
"protein_id": "NP_001036037.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 501,
"cds_start": 758,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "ENST00000628375.2",
"protein_id": "ENSP00000487577.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 425,
"cds_start": 650,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Val44Ala",
"transcript": "ENST00000637613.1",
"protein_id": "ENSP00000489976.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 219,
"cds_start": 131,
"cds_end": null,
"cds_length": 660,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 986,
"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": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.263T>C",
"hgvs_p": null,
"transcript": "ENST00000625662.3",
"protein_id": "ENSP00000486007.2",
"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": 8344,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.950T>C",
"hgvs_p": null,
"transcript": "ENST00000630790.1",
"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": 4499,
"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": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.1330T>C",
"hgvs_p": null,
"transcript": "ENST00000635856.1",
"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": 4236,
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.128T>C",
"hgvs_p": null,
"transcript": "ENST00000636881.1",
"protein_id": "ENSP00000489846.1",
"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": 3545,
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.739T>C",
"hgvs_p": null,
"transcript": "ENST00000637572.1",
"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": 4452,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.*282T>C",
"hgvs_p": null,
"transcript": "ENST00000700549.1",
"protein_id": "ENSP00000515055.1",
"transcript_support_level": null,
"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": 1532,
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.758T>C",
"hgvs_p": null,
"transcript": "ENST00000700550.1",
"protein_id": "ENSP00000515056.1",
"transcript_support_level": null,
"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": 4645,
"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": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.758T>C",
"hgvs_p": null,
"transcript": "ENST00000700551.1",
"protein_id": "ENSP00000515057.1",
"transcript_support_level": null,
"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": 3639,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.*282T>C",
"hgvs_p": null,
"transcript": "ENST00000700549.1",
"protein_id": "ENSP00000515055.1",
"transcript_support_level": null,
"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": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.*183T>C",
"hgvs_p": null,
"transcript": "ENST00000700552.1",
"protein_id": "ENSP00000515058.1",
"transcript_support_level": null,
"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": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"dbsnp": "rs773621487",
"frequency_reference_population": 0.000006844599,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000068446,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.036996930837631226,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.0593,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.603,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001271.4",
"gene_symbol": "CHD2",
"hgnc_id": 1917,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Val253Ala"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy 94",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy 94",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}