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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: 19-10137146-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10137146&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10137146,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001130823.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4428T>G",
"hgvs_p": "p.His1476Gln",
"transcript": "NM_001130823.3",
"protein_id": "NP_001124295.1",
"transcript_support_level": null,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1632,
"cds_start": 4428,
"cds_end": null,
"cds_length": 4899,
"cdna_start": 4482,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": "ENST00000359526.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130823.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4428T>G",
"hgvs_p": "p.His1476Gln",
"transcript": "ENST00000359526.9",
"protein_id": "ENSP00000352516.3",
"transcript_support_level": 1,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1632,
"cds_start": 4428,
"cds_end": null,
"cds_length": 4899,
"cdna_start": 4482,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": "NM_001130823.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359526.9"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4380T>G",
"hgvs_p": "p.His1460Gln",
"transcript": "ENST00000340748.8",
"protein_id": "ENSP00000345739.3",
"transcript_support_level": 1,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4380,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4616,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340748.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.*4118T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000592705.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.*4118T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000592705.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4380T>G",
"hgvs_p": "p.His1460Gln",
"transcript": "ENST00000678804.1",
"protein_id": "ENSP00000503853.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1658,
"cds_start": 4380,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 4436,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678804.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4380T>G",
"hgvs_p": "p.His1460Gln",
"transcript": "ENST00000677946.1",
"protein_id": "ENSP00000504202.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4380,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 4436,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677946.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4428T>G",
"hgvs_p": "p.His1476Gln",
"transcript": "ENST00000917926.1",
"protein_id": "ENSP00000587985.1",
"transcript_support_level": null,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1635,
"cds_start": 4428,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 4516,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917926.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4434T>G",
"hgvs_p": "p.His1478Gln",
"transcript": "ENST00000917927.1",
"protein_id": "ENSP00000587986.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4434,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4488,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917927.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4380T>G",
"hgvs_p": "p.His1460Gln",
"transcript": "NM_001318730.2",
"protein_id": "NP_001305659.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1619,
"cds_start": 4380,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 4434,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318730.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4380T>G",
"hgvs_p": "p.His1460Gln",
"transcript": "NM_001379.4",
"protein_id": "NP_001370.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4380,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4434,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4380T>G",
"hgvs_p": "p.His1460Gln",
"transcript": "ENST00000676610.1",
"protein_id": "ENSP00000504236.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4380,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4436,
"cdna_end": null,
"cdna_length": 7157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676610.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4347T>G",
"hgvs_p": "p.His1449Gln",
"transcript": "ENST00000917928.1",
"protein_id": "ENSP00000587987.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4347,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 4400,
"cdna_end": null,
"cdna_length": 5201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917928.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4332T>G",
"hgvs_p": "p.His1444Gln",
"transcript": "ENST00000917929.1",
"protein_id": "ENSP00000587988.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4332,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4386,
"cdna_end": null,
"cdna_length": 5186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917929.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4380T>G",
"hgvs_p": "p.His1460Gln",
"transcript": "ENST00000679313.1",
"protein_id": "ENSP00000504512.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1580,
"cds_start": 4380,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 4436,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679313.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4380T>G",
"hgvs_p": "p.His1460Gln",
"transcript": "ENST00000679103.1",
"protein_id": "ENSP00000503151.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4380,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4436,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679103.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.4065T>G",
"hgvs_p": "p.His1355Gln",
"transcript": "NM_001318731.2",
"protein_id": "NP_001305660.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4065,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 4442,
"cdna_end": null,
"cdna_length": 5234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318731.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.2301T>G",
"hgvs_p": null,
"transcript": "ENST00000586588.5",
"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": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586588.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.2463T>G",
"hgvs_p": null,
"transcript": "ENST00000586667.2",
"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": 3259,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586667.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.705T>G",
"hgvs_p": null,
"transcript": "ENST00000588913.5",
"protein_id": "ENSP00000467125.1",
"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": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588913.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.3614T>G",
"hgvs_p": null,
"transcript": "ENST00000589351.6",
"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": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589351.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.4040T>G",
"hgvs_p": null,
"transcript": "ENST00000676604.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.012,
"phylop100way_prediction": "Benign",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001130823.3",
"gene_symbol": "DNMT1",
"hgnc_id": 2976,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.4428T>G",
"hgvs_p": "p.His1476Gln"
}
],
"clinvar_disease": "DNMT1-related disorder,Hereditary sensory neuropathy-deafness-dementia syndrome,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:5",
"phenotype_combined": "not specified|Hereditary sensory neuropathy-deafness-dementia syndrome|Inborn genetic diseases|not provided|DNMT1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}