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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: 2-25234330-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=25234330&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 25234330,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_022552.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "NM_022552.5",
"protein_id": "NP_072046.2",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2965,
"cdna_end": null,
"cdna_length": 9421,
"mane_select": "ENST00000321117.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022552.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "ENST00000321117.10",
"protein_id": "ENSP00000324375.5",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2965,
"cdna_end": null,
"cdna_length": 9421,
"mane_select": "NM_022552.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321117.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "ENST00000264709.7",
"protein_id": "ENSP00000264709.3",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 9501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264709.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2121A>G",
"hgvs_p": "p.Pro707Pro",
"transcript": "ENST00000380746.8",
"protein_id": "ENSP00000370122.4",
"transcript_support_level": 1,
"aa_start": 707,
"aa_end": null,
"aa_length": 723,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380746.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.*541A>G",
"hgvs_p": null,
"transcript": "ENST00000380756.7",
"protein_id": "ENSP00000370132.3",
"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": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000380756.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.*541A>G",
"hgvs_p": null,
"transcript": "ENST00000380756.7",
"protein_id": "ENSP00000370132.3",
"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": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000380756.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "NM_175629.2",
"protein_id": "NP_783328.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175629.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "ENST00000861234.1",
"protein_id": "ENSP00000531293.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3032,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861234.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "ENST00000861235.1",
"protein_id": "ENSP00000531294.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861235.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "ENST00000861236.1",
"protein_id": "ENSP00000531295.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861236.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "ENST00000938699.1",
"protein_id": "ENSP00000608758.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3375,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938699.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "ENST00000938700.1",
"protein_id": "ENSP00000608759.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3041,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938700.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2529A>G",
"hgvs_p": "p.Pro843Pro",
"transcript": "ENST00000960044.1",
"protein_id": "ENSP00000630103.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 859,
"cds_start": 2529,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2806,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960044.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2232A>G",
"hgvs_p": "p.Pro744Pro",
"transcript": "NM_001320893.1",
"protein_id": "NP_001307822.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 760,
"cds_start": 2232,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320893.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2121A>G",
"hgvs_p": "p.Pro707Pro",
"transcript": "NM_153759.3",
"protein_id": "NP_715640.2",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 723,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153759.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2019A>G",
"hgvs_p": "p.Pro673Pro",
"transcript": "NM_001375819.1",
"protein_id": "NP_001362748.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 689,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375819.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2019A>G",
"hgvs_p": "p.Pro673Pro",
"transcript": "ENST00000402667.1",
"protein_id": "ENSP00000384237.1",
"transcript_support_level": 5,
"aa_start": 673,
"aa_end": null,
"aa_length": 689,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402667.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2019A>G",
"hgvs_p": "p.Pro673Pro",
"transcript": "ENST00000683760.1",
"protein_id": "ENSP00000507765.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 689,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683760.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "XM_005264175.6",
"protein_id": "XP_005264232.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 5223,
"cdna_end": null,
"cdna_length": 11679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264175.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2688A>G",
"hgvs_p": "p.Pro896Pro",
"transcript": "XM_017003526.2",
"protein_id": "XP_016859015.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 912,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 9471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003526.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2541A>G",
"hgvs_p": "p.Pro847Pro",
"transcript": "XM_011532662.3",
"protein_id": "XP_011530964.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 863,
"cds_start": 2541,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 3793,
"cdna_end": null,
"cdna_length": 10249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532662.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2391A>G",
"hgvs_p": "p.Pro797Pro",
"transcript": "XM_047443592.1",
"protein_id": "XP_047299548.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
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],
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"dbsnp": "rs181757577",
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"hom_count_reference_population": 10,
"allele_count_reference_population": 883,
"gnomad_exomes_af": 0.000456971,
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"gnomad_exomes_ac": 668,
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"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.858,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022552.5",
"gene_symbol": "DNMT3A",
"hgnc_id": 2978,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.2688A>G",
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}
],
"clinvar_disease": "DNMT3A-related disorder,Inborn genetic diseases,Tatton-Brown-Rahman overgrowth syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "Tatton-Brown-Rahman overgrowth syndrome|not provided|Inborn genetic diseases|DNMT3A-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}