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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: 3-13504243-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=13504243&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 13504243,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024827.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "NM_024827.4",
"protein_id": "NP_079103.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 347,
"cds_start": 799,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295757.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024827.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "ENST00000295757.8",
"protein_id": "ENSP00000295757.3",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 347,
"cds_start": 799,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024827.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295757.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"transcript": "ENST00000437379.2",
"protein_id": "ENSP00000395188.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 319,
"cds_start": 715,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437379.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.672C>G",
"hgvs_p": "p.Thr224Thr",
"transcript": "ENST00000433119.5",
"protein_id": "ENSP00000412514.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 236,
"cds_start": 672,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433119.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Arg292Gly",
"transcript": "ENST00000861271.1",
"protein_id": "ENSP00000531330.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 372,
"cds_start": 874,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861271.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.868C>G",
"hgvs_p": "p.Arg290Gly",
"transcript": "ENST00000861272.1",
"protein_id": "ENSP00000531331.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 370,
"cds_start": 868,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861272.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "ENST00000967010.1",
"protein_id": "ENSP00000637069.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 368,
"cds_start": 799,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967010.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Arg266Gly",
"transcript": "ENST00000861269.1",
"protein_id": "ENSP00000531328.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 346,
"cds_start": 796,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861269.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.682C>G",
"hgvs_p": "p.Arg228Gly",
"transcript": "ENST00000861268.1",
"protein_id": "ENSP00000531327.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 308,
"cds_start": 682,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861268.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "NM_001136041.3",
"protein_id": "NP_001129513.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136041.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000522202.5",
"protein_id": "ENSP00000429794.1",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522202.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.616C>G",
"hgvs_p": "p.Arg206Gly",
"transcript": "ENST00000861266.1",
"protein_id": "ENSP00000531325.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 286,
"cds_start": 616,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861266.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Arg188Gly",
"transcript": "NM_001330636.2",
"protein_id": "NP_001317565.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 268,
"cds_start": 562,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330636.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Arg188Gly",
"transcript": "ENST00000402271.5",
"protein_id": "ENSP00000384123.1",
"transcript_support_level": 3,
"aa_start": 188,
"aa_end": null,
"aa_length": 268,
"cds_start": 562,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402271.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Arg188Gly",
"transcript": "ENST00000861267.1",
"protein_id": "ENSP00000531326.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 268,
"cds_start": 562,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861267.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000967009.1",
"protein_id": "ENSP00000637068.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 267,
"cds_start": 559,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967009.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Arg167Gly",
"transcript": "ENST00000404040.5",
"protein_id": "ENSP00000385475.1",
"transcript_support_level": 3,
"aa_start": 167,
"aa_end": null,
"aa_length": 247,
"cds_start": 499,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404040.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Arg101Gly",
"transcript": "ENST00000402259.5",
"protein_id": "ENSP00000384706.1",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 181,
"cds_start": 301,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402259.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.672C>G",
"hgvs_p": "p.Thr224Thr",
"transcript": "ENST00000446613.6",
"protein_id": "ENSP00000401487.3",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 236,
"cds_start": 672,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446613.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Thr134Thr",
"transcript": "ENST00000404548.5",
"protein_id": "ENSP00000385528.1",
"transcript_support_level": 4,
"aa_start": 134,
"aa_end": null,
"aa_length": 146,
"cds_start": 402,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404548.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Thr106Thr",
"transcript": "ENST00000405025.5",
"protein_id": "ENSP00000384019.1",
"transcript_support_level": 4,
"aa_start": 106,
"aa_end": null,
"aa_length": 118,
"cds_start": 318,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.762+37C>G",
"hgvs_p": null,
"transcript": "ENST00000861270.1",
"protein_id": "ENSP00000531329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861270.1"
},
{
"aa_ref": null,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.246,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "c.799C>G",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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"effects": [
"intron_variant"
],
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}