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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: 12-109591275-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109591275&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109591275,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000228510.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Ile268Thr",
"transcript": "NM_000431.4",
"protein_id": "NP_000422.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 396,
"cds_start": 803,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "ENST00000228510.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Ile268Thr",
"transcript": "ENST00000228510.8",
"protein_id": "ENSP00000228510.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 396,
"cds_start": 803,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "NM_000431.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.878T>C",
"hgvs_p": "p.Ile293Thr",
"transcript": "NM_001414512.1",
"protein_id": "NP_001401441.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 421,
"cds_start": 878,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Ile268Thr",
"transcript": "NM_001114185.3",
"protein_id": "NP_001107657.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 396,
"cds_start": 803,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Ile268Thr",
"transcript": "NM_001414511.1",
"protein_id": "NP_001401440.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 396,
"cds_start": 803,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Ile268Thr",
"transcript": "ENST00000546277.6",
"protein_id": "ENSP00000438153.2",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 396,
"cds_start": 803,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Ile268Thr",
"transcript": "NM_001414513.1",
"protein_id": "NP_001401442.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 363,
"cds_start": 803,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Ile217Thr",
"transcript": "ENST00000636996.1",
"protein_id": "ENSP00000490869.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 345,
"cds_start": 650,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.647T>C",
"hgvs_p": "p.Ile216Thr",
"transcript": "NM_001301182.2",
"protein_id": "NP_001288111.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 344,
"cds_start": 647,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.647T>C",
"hgvs_p": "p.Ile216Thr",
"transcript": "ENST00000392727.7",
"protein_id": "ENSP00000376487.3",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 344,
"cds_start": 647,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.647T>C",
"hgvs_p": "p.Ile216Thr",
"transcript": "NM_001414514.1",
"protein_id": "NP_001401443.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 311,
"cds_start": 647,
"cds_end": null,
"cds_length": 936,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Ile74Thr",
"transcript": "NM_001414515.1",
"protein_id": "NP_001401444.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 202,
"cds_start": 221,
"cds_end": null,
"cds_length": 609,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Ile368Thr",
"transcript": "XM_047428873.1",
"protein_id": "XP_047284829.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 496,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Ile268Thr",
"transcript": "XM_017019314.2",
"protein_id": "XP_016874803.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 396,
"cds_start": 803,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.647T>C",
"hgvs_p": "p.Ile216Thr",
"transcript": "XM_017019313.3",
"protein_id": "XP_016874802.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 344,
"cds_start": 647,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*250T>C",
"hgvs_p": null,
"transcript": "ENST00000447878.6",
"protein_id": "ENSP00000415555.2",
"transcript_support_level": 2,
"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": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*476T>C",
"hgvs_p": null,
"transcript": "ENST00000537237.5",
"protein_id": "ENSP00000445382.1",
"transcript_support_level": 5,
"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": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.3036T>C",
"hgvs_p": null,
"transcript": "ENST00000540353.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.442T>C",
"hgvs_p": null,
"transcript": "ENST00000636529.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*567T>C",
"hgvs_p": null,
"transcript": "ENST00000697195.1",
"protein_id": "ENSP00000513181.1",
"transcript_support_level": null,
"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": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.891T>C",
"hgvs_p": null,
"transcript": "ENST00000697196.1",
"protein_id": "ENSP00000513182.1",
"transcript_support_level": null,
"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": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.2832T>C",
"hgvs_p": null,
"transcript": "ENST00000697197.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.1015T>C",
"hgvs_p": null,
"transcript": "NR_182758.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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{
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{
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}
],
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"dbsnp": "rs104895304",
"frequency_reference_population": 0.00019207035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 310,
"gnomad_exomes_af": 0.000194272,
"gnomad_genomes_af": 0.000170915,
"gnomad_exomes_ac": 284,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8951390981674194,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.885,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3608,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.631,
"phylop100way_prediction": "Uncertain_significance",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM1",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000228510.8",
"gene_symbol": "MVK",
"hgnc_id": 7530,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Ile268Thr"
}
],
"clinvar_disease": " disseminated superficial actinic type,Autoinflammatory syndrome,Hyperimmunoglobulin D with periodic fever,Inborn genetic diseases,MVK-related disorder,Mevalonic aciduria,Porokeratosis 3,Retinal dystrophy,not provided,not specified",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:15 O:1",
"phenotype_combined": "Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|not provided|Porokeratosis 3, disseminated superficial actinic type;Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria|not specified|Inborn genetic diseases|MVK-related disorder|Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria|Retinal dystrophy|Autoinflammatory syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}