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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: 10-94171182-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94171182&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94171182,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016341.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "NM_016341.4",
"protein_id": "NP_057425.3",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2302,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371380.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016341.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000371380.8",
"protein_id": "ENSP00000360431.2",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 2302,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016341.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371380.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"transcript": "ENST00000371375.2",
"protein_id": "ENSP00000360426.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 1994,
"cds_start": 571,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371375.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000875452.1",
"protein_id": "ENSP00000545511.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2302,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875452.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000875451.1",
"protein_id": "ENSP00000545510.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2300,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875451.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "NM_001288989.2",
"protein_id": "NP_001275918.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2286,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288989.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000692396.1",
"protein_id": "ENSP00000508605.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2286,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692396.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000875450.1",
"protein_id": "ENSP00000545509.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2232,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875450.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000692286.1",
"protein_id": "ENSP00000509490.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2230,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692286.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"transcript": "NM_001165979.2",
"protein_id": "NP_001159451.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1994,
"cds_start": 571,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165979.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"transcript": "ENST00000675218.1",
"protein_id": "ENSP00000501910.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1994,
"cds_start": 571,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675218.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"transcript": "ENST00000688810.1",
"protein_id": "ENSP00000509140.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1978,
"cds_start": 571,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688810.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"transcript": "ENST00000371385.8",
"protein_id": "ENSP00000360438.4",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 1960,
"cds_start": 571,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371385.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Arg114Cys",
"transcript": "ENST00000676102.1",
"protein_id": "ENSP00000502811.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1369,
"cds_start": 340,
"cds_end": null,
"cds_length": 4111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676102.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "XM_006717885.5",
"protein_id": "XP_006717948.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717885.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "XM_017016310.3",
"protein_id": "XP_016871799.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016310.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "XM_017016311.3",
"protein_id": "XP_016871800.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016311.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "XM_047425284.1",
"protein_id": "XP_047281240.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425284.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "XM_047425285.1",
"protein_id": "XP_047281241.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425285.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "XM_047425286.1",
"protein_id": "XP_047281242.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425286.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "XM_047425287.1",
"protein_id": "XP_047281243.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425287.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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{
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{
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"gene_symbol": "PLCE1",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "PLCE1",
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"dbsnp": "rs61751493",
"frequency_reference_population": 0.0021017385,
"hom_count_reference_population": 3,
"allele_count_reference_population": 3392,
"gnomad_exomes_af": 0.00218596,
"gnomad_genomes_af": 0.0012935,
"gnomad_exomes_ac": 3195,
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"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.026130855083465576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1232,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.277,
"phylop100way_prediction": "Uncertain_significance",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016341.4",
"gene_symbol": "PLCE1",
"hgnc_id": 17175,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys"
}
],
"clinvar_disease": " type 3,Nephrotic syndrome,PLCE1-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:2",
"phenotype_combined": "Nephrotic syndrome, type 3|not provided|PLCE1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}