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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: 2-25246764-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=25246764&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 25246764,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000321117.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "NM_022552.5",
"protein_id": "NP_072046.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 912,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 9421,
"mane_select": "ENST00000321117.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "ENST00000321117.10",
"protein_id": "ENSP00000324375.5",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 912,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 9421,
"mane_select": "NM_022552.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "ENST00000264709.7",
"protein_id": "ENSP00000264709.3",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 912,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 9501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Arg190Cys",
"transcript": "ENST00000380746.8",
"protein_id": "ENSP00000370122.4",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 723,
"cds_start": 568,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.1135C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "NM_175629.2",
"protein_id": "NP_783328.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 912,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Cys",
"transcript": "NM_001320893.1",
"protein_id": "NP_001307822.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 760,
"cds_start": 679,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Arg190Cys",
"transcript": "NM_153759.3",
"protein_id": "NP_715640.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 723,
"cds_start": 568,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "NM_001375819.1",
"protein_id": "NP_001362748.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 689,
"cds_start": 466,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "ENST00000402667.1",
"protein_id": "ENSP00000384237.1",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 689,
"cds_start": 466,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "ENST00000683760.1",
"protein_id": "ENSP00000507765.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 689,
"cds_start": 466,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Arg194Cys",
"transcript": "ENST00000470983.5",
"protein_id": "ENSP00000508911.1",
"transcript_support_level": 3,
"aa_start": 194,
"aa_end": null,
"aa_length": 194,
"cds_start": 580,
"cds_end": null,
"cds_length": 587,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "XM_005264175.6",
"protein_id": "XP_005264232.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 912,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3670,
"cdna_end": null,
"cdna_length": 11679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "XM_017003526.2",
"protein_id": "XP_016859015.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 912,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 9471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Arg330Cys",
"transcript": "XM_011532662.3",
"protein_id": "XP_011530964.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 863,
"cds_start": 988,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 10249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Cys",
"transcript": "XM_047443592.1",
"protein_id": "XP_047299548.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 813,
"cds_start": 838,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 8947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "XM_047443593.1",
"protein_id": "XP_047299549.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 806,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "XM_011532664.3",
"protein_id": "XP_011530966.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 781,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "XM_047443594.1",
"protein_id": "XP_047299550.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 752,
"cds_start": 655,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 8971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Cys",
"transcript": "XM_011532666.3",
"protein_id": "XP_011530968.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 736,
"cds_start": 607,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 8734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "XM_011532667.4",
"protein_id": "XP_011530969.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 689,
"cds_start": 466,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 8567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "XM_017003527.2",
"protein_id": "XP_016859016.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 689,
"cds_start": 466,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 8675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.466C>T",
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},
{
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}
],
"gene_symbol": "DNMT3A",
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"dbsnp": "rs754459010",
"frequency_reference_population": 0.0000068176632,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000615969,
"gnomad_genomes_af": 0.0000131282,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8093149065971375,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.655,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9948,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.809,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000321117.10",
"gene_symbol": "DNMT3A",
"hgnc_id": 2978,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys"
}
],
"clinvar_disease": "DNMT3A-related disorder,Tatton-Brown-Rahman overgrowth syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not specified|not provided|DNMT3A-related disorder|Tatton-Brown-Rahman overgrowth syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}