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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: 2-219284820-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219284820&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219284820,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006736.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Gly270Arg",
"transcript": "NM_006736.6",
"protein_id": "NP_006727.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 324,
"cds_start": 808,
"cds_end": null,
"cds_length": 975,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "ENST00000336576.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006736.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Gly270Arg",
"transcript": "ENST00000336576.10",
"protein_id": "ENSP00000338019.5",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 324,
"cds_start": 808,
"cds_end": null,
"cds_length": 975,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "NM_006736.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336576.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Gly270Arg",
"transcript": "ENST00000933785.1",
"protein_id": "ENSP00000603844.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 324,
"cds_start": 808,
"cds_end": null,
"cds_length": 975,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933785.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Gly270Arg",
"transcript": "NM_001039550.2",
"protein_id": "NP_001034639.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 277,
"cds_start": 808,
"cds_end": null,
"cds_length": 834,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039550.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Gly270Arg",
"transcript": "ENST00000392086.8",
"protein_id": "ENSP00000375936.4",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 277,
"cds_start": 808,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392086.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "c.715G>C",
"hgvs_p": "p.Gly239Arg",
"transcript": "ENST00000392087.6",
"protein_id": "ENSP00000375937.2",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 243,
"cds_start": 715,
"cds_end": null,
"cds_length": 733,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392087.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "n.799G>C",
"hgvs_p": null,
"transcript": "ENST00000463463.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 807,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463463.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "n.551G>C",
"hgvs_p": null,
"transcript": "ENST00000472019.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472019.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "n.595G>C",
"hgvs_p": null,
"transcript": "ENST00000473750.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 971,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473750.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "n.432G>C",
"hgvs_p": null,
"transcript": "ENST00000476254.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 486,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476254.1"
},
{
"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": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "n.2412G>C",
"hgvs_p": null,
"transcript": "ENST00000477917.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477917.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "n.1015G>C",
"hgvs_p": null,
"transcript": "ENST00000684599.1",
"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": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"hgvs_c": "c.*124G>C",
"hgvs_p": null,
"transcript": "ENST00000425450.5",
"protein_id": "ENSP00000414796.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425450.5"
}
],
"gene_symbol": "DNAJB2",
"gene_hgnc_id": 5228,
"dbsnp": "rs34127289",
"frequency_reference_population": 0.0021699816,
"hom_count_reference_population": 59,
"allele_count_reference_population": 3499,
"gnomad_exomes_af": 0.00118074,
"gnomad_genomes_af": 0.0116507,
"gnomad_exomes_ac": 1724,
"gnomad_genomes_ac": 1775,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 25,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00345003604888916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.1362,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.807,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006736.6",
"gene_symbol": "DNAJB2",
"hgnc_id": 5228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Gly270Arg"
}
],
"clinvar_disease": " autosomal recessive 5, distal hereditary motor,Neuronopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Neuronopathy, distal hereditary motor, autosomal recessive 5|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}