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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: 19-10174102-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10174102&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10174102,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000359526.9",
"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": 41,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.649-197T>G",
"hgvs_p": null,
"transcript": "NM_001130823.3",
"protein_id": "NP_001124295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1632,
"cds_start": -4,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": "ENST00000359526.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.649-197T>G",
"hgvs_p": null,
"transcript": "ENST00000359526.9",
"protein_id": "ENSP00000352516.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1632,
"cds_start": -4,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": "NM_001130823.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.601-197T>G",
"hgvs_p": null,
"transcript": "ENST00000340748.8",
"protein_id": "ENSP00000345739.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1616,
"cds_start": -4,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.*339-197T>G",
"hgvs_p": null,
"transcript": "ENST00000592705.5",
"protein_id": "ENSP00000466657.1",
"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": 5215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.601-197T>G",
"hgvs_p": null,
"transcript": "ENST00000678804.1",
"protein_id": "ENSP00000503853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1658,
"cds_start": -4,
"cds_end": null,
"cds_length": 4977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.601-197T>G",
"hgvs_p": null,
"transcript": "ENST00000677946.1",
"protein_id": "ENSP00000504202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1655,
"cds_start": -4,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.601-197T>G",
"hgvs_p": null,
"transcript": "NM_001318730.2",
"protein_id": "NP_001305659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1619,
"cds_start": -4,
"cds_end": null,
"cds_length": 4860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.601-197T>G",
"hgvs_p": null,
"transcript": "NM_001379.4",
"protein_id": "NP_001370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1616,
"cds_start": -4,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.601-197T>G",
"hgvs_p": null,
"transcript": "ENST00000676610.1",
"protein_id": "ENSP00000504236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1613,
"cds_start": -4,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.601-197T>G",
"hgvs_p": null,
"transcript": "ENST00000679313.1",
"protein_id": "ENSP00000504512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"cds_start": -4,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.601-197T>G",
"hgvs_p": null,
"transcript": "ENST00000679103.1",
"protein_id": "ENSP00000503151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1577,
"cds_start": -4,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.286-197T>G",
"hgvs_p": null,
"transcript": "NM_001318731.2",
"protein_id": "NP_001305660.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1511,
"cds_start": -4,
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"cds_length": 4536,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.238-197T>G",
"hgvs_p": null,
"transcript": "ENST00000588952.5",
"protein_id": "ENSP00000467050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.*429-197T>G",
"hgvs_p": null,
"transcript": "ENST00000586988.5",
"protein_id": "ENSP00000464958.1",
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.255-197T>G",
"hgvs_p": null,
"transcript": "ENST00000676604.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.657-197T>G",
"hgvs_p": null,
"transcript": "ENST00000676820.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.*291-197T>G",
"hgvs_p": null,
"transcript": "ENST00000677013.1",
"protein_id": "ENSP00000503135.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.601-197T>G",
"hgvs_p": null,
"transcript": "ENST00000677250.1",
"protein_id": "ENSP00000502894.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.286-197T>G",
"hgvs_p": null,
"transcript": "ENST00000677616.1",
"protein_id": "ENSP00000503055.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
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"hgvs_c": "n.601-197T>G",
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"transcript": "ENST00000677634.1",
"protein_id": "ENSP00000504246.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.381-197T>G",
"hgvs_p": null,
"transcript": "ENST00000677685.1",
"protein_id": "ENSP00000503407.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.738-197T>G",
"hgvs_p": null,
"transcript": "ENST00000678024.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"dbsnp": "rs759920",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.691,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000359526.9",
"gene_symbol": "DNMT1",
"hgnc_id": 2976,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.649-197T>G",
"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
}