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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: 6-32162817-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32162817&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32162817,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_138717.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "NM_005155.7",
"protein_id": "NP_005146.4",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324816.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005155.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000324816.11",
"protein_id": "ENSP00000320528.6",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005155.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324816.11"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Pro",
"transcript": "ENST00000361568.6",
"protein_id": "ENSP00000354608.2",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 308,
"cds_start": 794,
"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": "ENST00000361568.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000375137.6",
"protein_id": "ENSP00000364279.2",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375137.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPT2-EGFL8",
"gene_hgnc_id": 48343,
"hgvs_c": "n.765+195G>C",
"hgvs_p": null,
"transcript": "ENST00000422437.5",
"protein_id": "ENSP00000457534.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422437.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Arg275Pro",
"transcript": "ENST00000937064.1",
"protein_id": "ENSP00000607123.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 318,
"cds_start": 824,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937064.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Pro",
"transcript": "NM_138717.3",
"protein_id": "NP_619731.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 308,
"cds_start": 794,
"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": "NM_138717.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "NM_001204103.2",
"protein_id": "NP_001191032.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204103.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000375143.6",
"protein_id": "ENSP00000364285.2",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375143.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000395523.5",
"protein_id": "ENSP00000378894.1",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395523.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000897785.1",
"protein_id": "ENSP00000567844.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897785.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000897788.1",
"protein_id": "ENSP00000567847.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897788.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000897789.1",
"protein_id": "ENSP00000567848.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897789.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000897790.1",
"protein_id": "ENSP00000567849.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897790.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000937057.1",
"protein_id": "ENSP00000607116.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937057.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000937058.1",
"protein_id": "ENSP00000607117.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937058.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000937061.1",
"protein_id": "ENSP00000607120.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937061.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000937062.1",
"protein_id": "ENSP00000607121.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937062.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000963978.1",
"protein_id": "ENSP00000634037.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 302,
"cds_start": 776,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963978.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Arg234Pro",
"transcript": "ENST00000897786.1",
"protein_id": "ENSP00000567845.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 277,
"cds_start": 701,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897786.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Arg234Pro",
"transcript": "ENST00000897787.1",
"protein_id": "ENSP00000567846.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 277,
"cds_start": 701,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897787.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2",
"gene_hgnc_id": 9326,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Arg234Pro",
"transcript": "ENST00000937060.1",
"protein_id": "ENSP00000607119.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 277,
"cds_start": 701,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937060.1"
},
{
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{
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],
"gene_symbol": "PPT2",
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"dbsnp": "rs766049550",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5209303498268127,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.63,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7454,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.383,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138717.3",
"gene_symbol": "PPT2",
"hgnc_id": 9326,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Pro"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000422437.5",
"gene_symbol": "PPT2-EGFL8",
"hgnc_id": 48343,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.765+195G>C",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}