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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: 19-10159732-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10159732&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DNMT1",
"hgnc_id": 2976,
"hgvs_c": "c.1206G>C",
"hgvs_p": "p.Leu402Leu",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_001130823.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_score": -15,
"allele_count_reference_population": 453,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "19",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "DNMT1-related disorder,Hereditary sensory neuropathy-deafness-dementia syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.44999998807907104,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1632,
"aa_ref": "L",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5274,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 4899,
"cds_start": 1206,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001130823.3",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1206G>C",
"hgvs_p": "p.Leu402Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359526.9",
"protein_coding": true,
"protein_id": "NP_001124295.1",
"strand": false,
"transcript": "NM_001130823.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1632,
"aa_ref": "L",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5274,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 4899,
"cds_start": 1206,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000359526.9",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1206G>C",
"hgvs_p": "p.Leu402Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130823.3",
"protein_coding": true,
"protein_id": "ENSP00000352516.3",
"strand": false,
"transcript": "ENST00000359526.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 4851,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000340748.8",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Leu386Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345739.3",
"strand": false,
"transcript": "ENST00000340748.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5215,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000592705.5",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "n.*896G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466657.1",
"strand": false,
"transcript": "ENST00000592705.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5215,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000592705.5",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "n.*896G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466657.1",
"strand": false,
"transcript": "ENST00000592705.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1658,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 4977,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000678804.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Leu386Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503853.1",
"strand": false,
"transcript": "ENST00000678804.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1655,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 4968,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677946.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Leu386Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504202.1",
"strand": false,
"transcript": "ENST00000677946.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1635,
"aa_ref": "L",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 4908,
"cds_start": 1206,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000917926.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1206G>C",
"hgvs_p": "p.Leu402Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587985.1",
"strand": false,
"transcript": "ENST00000917926.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1634,
"aa_ref": "L",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5281,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 4905,
"cds_start": 1212,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000917927.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1212G>C",
"hgvs_p": "p.Leu404Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587986.1",
"strand": false,
"transcript": "ENST00000917927.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1619,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5235,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 4860,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001318730.2",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Leu386Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305659.1",
"strand": false,
"transcript": "NM_001318730.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 4851,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001379.4",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Leu386Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001370.1",
"strand": false,
"transcript": "NM_001379.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1613,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7157,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 4842,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676610.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Leu386Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504236.1",
"strand": false,
"transcript": "ENST00000676610.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1608,
"aa_ref": "L",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 4827,
"cds_start": 1206,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000917928.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1206G>C",
"hgvs_p": "p.Leu402Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587987.1",
"strand": false,
"transcript": "ENST00000917928.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "L",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5186,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 4812,
"cds_start": 1110,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000917929.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1110G>C",
"hgvs_p": "p.Leu370Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587988.1",
"strand": false,
"transcript": "ENST00000917929.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 4743,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000679313.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Leu386Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504512.1",
"strand": false,
"transcript": "ENST00000679313.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5126,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 4734,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000679103.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Leu386Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503151.1",
"strand": false,
"transcript": "ENST00000679103.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "L",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5234,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 4536,
"cds_start": 843,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001318731.2",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "c.843G>C",
"hgvs_p": "p.Leu281Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305660.1",
"strand": false,
"transcript": "NM_001318731.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 911,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000585843.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "n.363G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000585843.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 37,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676604.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "n.818G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000676604.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676820.1",
"gene_hgnc_id": 2976,
"gene_symbol": "DNMT1",
"hgvs_c": "n.1214G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000676820.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
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