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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: 5-98897307-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=98897307&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 98897307,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000614616.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "NM_001270.4",
"protein_id": "NP_001261.2",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1710,
"cds_start": 1379,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 8145,
"mane_select": "ENST00000614616.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "ENST00000614616.5",
"protein_id": "ENSP00000483667.1",
"transcript_support_level": 5,
"aa_start": 460,
"aa_end": null,
"aa_length": 1710,
"cds_start": 1379,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 8145,
"mane_select": "NM_001270.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "NM_001364113.3",
"protein_id": "NP_001351042.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1798,
"cds_start": 1379,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 8409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "ENST00000511067.3",
"protein_id": "ENSP00000479403.2",
"transcript_support_level": 5,
"aa_start": 460,
"aa_end": null,
"aa_length": 1798,
"cds_start": 1379,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 8409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "NM_001376194.2",
"protein_id": "NP_001363123.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1710,
"cds_start": 1379,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 7916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "XM_024454344.2",
"protein_id": "XP_024310112.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1798,
"cds_start": 1379,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "XM_047416669.1",
"protein_id": "XP_047272625.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1710,
"cds_start": 1379,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 7860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "XM_024454345.2",
"protein_id": "XP_024310113.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1640,
"cds_start": 1379,
"cds_end": null,
"cds_length": 4923,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 8198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "XM_047416670.1",
"protein_id": "XP_047272626.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1552,
"cds_start": 1379,
"cds_end": null,
"cds_length": 4659,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 7934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "XM_047416672.1",
"protein_id": "XP_047272628.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1511,
"cds_start": 1379,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys",
"transcript": "XM_047416673.1",
"protein_id": "XP_047272629.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1084,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.1526G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.1379G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.1996G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.1996G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"dbsnp": "rs1554078856",
"frequency_reference_population": 0.000006578428,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657843,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4423353672027588,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.581,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7021,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.542,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000614616.5",
"gene_symbol": "CHD1",
"hgnc_id": 1915,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Lys"
}
],
"clinvar_disease": "Pilarowski-Bjornsson syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pilarowski-Bjornsson syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}