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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: 5-98869326-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=98869326&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 98869326,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001364113.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4107+428G>A",
"hgvs_p": null,
"transcript": "NM_001270.4",
"protein_id": "NP_001261.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1710,
"cds_start": null,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000614616.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4107+428G>A",
"hgvs_p": null,
"transcript": "ENST00000614616.5",
"protein_id": "ENSP00000483667.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1710,
"cds_start": null,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614616.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4108-49G>A",
"hgvs_p": null,
"transcript": "NM_001364113.3",
"protein_id": "NP_001351042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1798,
"cds_start": null,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364113.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4108-49G>A",
"hgvs_p": null,
"transcript": "ENST00000511067.3",
"protein_id": "ENSP00000479403.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1798,
"cds_start": null,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511067.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4107+428G>A",
"hgvs_p": null,
"transcript": "NM_001376194.2",
"protein_id": "NP_001363123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1710,
"cds_start": null,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376194.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4107+428G>A",
"hgvs_p": null,
"transcript": "ENST00000926040.1",
"protein_id": "ENSP00000596099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1710,
"cds_start": null,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.3957+428G>A",
"hgvs_p": null,
"transcript": "ENST00000926041.1",
"protein_id": "ENSP00000596100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1660,
"cds_start": null,
"cds_end": null,
"cds_length": 4983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4108-49G>A",
"hgvs_p": null,
"transcript": "XM_024454344.2",
"protein_id": "XP_024310112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1798,
"cds_start": null,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454344.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4107+428G>A",
"hgvs_p": null,
"transcript": "XM_047416669.1",
"protein_id": "XP_047272625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1710,
"cds_start": null,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4108-49G>A",
"hgvs_p": null,
"transcript": "XM_024454345.2",
"protein_id": "XP_024310113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1640,
"cds_start": null,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454345.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4107+428G>A",
"hgvs_p": null,
"transcript": "XM_047416670.1",
"protein_id": "XP_047272626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1552,
"cds_start": null,
"cds_end": null,
"cds_length": 4659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4108-49G>A",
"hgvs_p": null,
"transcript": "XM_047416672.1",
"protein_id": "XP_047272628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": null,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.377-49G>A",
"hgvs_p": null,
"transcript": "ENST00000508756.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000508756.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.753+428G>A",
"hgvs_p": null,
"transcript": "ENST00000514344.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000514344.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.4254+428G>A",
"hgvs_p": null,
"transcript": "ENST00000706140.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000706140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.*1635+428G>A",
"hgvs_p": null,
"transcript": "ENST00000706141.1",
"protein_id": "ENSP00000516225.1",
"transcript_support_level": null,
"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": "ENST00000706141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.4754+428G>A",
"hgvs_p": null,
"transcript": "NR_157078.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_157078.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.4724+428G>A",
"hgvs_p": null,
"transcript": "NR_157079.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_157079.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.*153G>A",
"hgvs_p": null,
"transcript": "ENST00000414220.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000414220.2"
}
],
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"dbsnp": "rs161740",
"frequency_reference_population": 0.0029155752,
"hom_count_reference_population": 10,
"allele_count_reference_population": 2758,
"gnomad_exomes_af": 0.00319663,
"gnomad_genomes_af": 0.00144744,
"gnomad_exomes_ac": 2538,
"gnomad_genomes_ac": 220,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.442,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001364113.3",
"gene_symbol": "CHD1",
"hgnc_id": 1915,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.4108-49G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}