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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: 12-120213982-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120213982&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120213982,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001385981.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2839G>C",
"hgvs_p": "p.Glu947Gln",
"transcript": "NM_001385981.1",
"protein_id": "NP_001372910.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000637617.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385981.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2839G>C",
"hgvs_p": "p.Glu947Gln",
"transcript": "ENST00000637617.2",
"protein_id": "ENSP00000489840.1",
"transcript_support_level": 5,
"aa_start": 947,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385981.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637617.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1369G>C",
"hgvs_p": "p.Glu457Gln",
"transcript": "ENST00000228307.11",
"protein_id": "ENSP00000228307.7",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 591,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228307.11"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1267G>C",
"hgvs_p": "p.Glu423Gln",
"transcript": "ENST00000424649.6",
"protein_id": "ENSP00000391283.2",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 557,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424649.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.868G>C",
"hgvs_p": "p.Glu290Gln",
"transcript": "ENST00000458477.6",
"protein_id": "ENSP00000395536.2",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 424,
"cds_start": 868,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458477.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "n.1398G>C",
"hgvs_p": null,
"transcript": "ENST00000538144.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000538144.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.3100G>C",
"hgvs_p": "p.Glu1034Gln",
"transcript": "ENST00000967075.1",
"protein_id": "ENSP00000637134.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3100,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967075.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2833G>C",
"hgvs_p": "p.Glu945Gln",
"transcript": "ENST00000884794.1",
"protein_id": "ENSP00000554853.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884794.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2707G>C",
"hgvs_p": "p.Glu903Gln",
"transcript": "ENST00000884793.1",
"protein_id": "ENSP00000554852.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2707,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884793.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2563G>C",
"hgvs_p": "p.Glu855Gln",
"transcript": "NM_001385982.1",
"protein_id": "NP_001372911.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 989,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385982.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2563G>C",
"hgvs_p": "p.Glu855Gln",
"transcript": "ENST00000884795.1",
"protein_id": "ENSP00000554854.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 989,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884795.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2557G>C",
"hgvs_p": "p.Glu853Gln",
"transcript": "NM_001385983.1",
"protein_id": "NP_001372912.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 987,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385983.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2557G>C",
"hgvs_p": "p.Glu853Gln",
"transcript": "ENST00000884802.1",
"protein_id": "ENSP00000554861.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 987,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884802.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2398G>C",
"hgvs_p": "p.Glu800Gln",
"transcript": "ENST00000967074.1",
"protein_id": "ENSP00000637133.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 934,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967074.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2296G>C",
"hgvs_p": "p.Glu766Gln",
"transcript": "NM_001385984.1",
"protein_id": "NP_001372913.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 900,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385984.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2254G>C",
"hgvs_p": "p.Glu752Gln",
"transcript": "ENST00000967076.1",
"protein_id": "ENSP00000637135.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 886,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967076.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2152G>C",
"hgvs_p": "p.Glu718Gln",
"transcript": "NM_001385985.1",
"protein_id": "NP_001372914.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 852,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385985.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2152G>C",
"hgvs_p": "p.Glu718Gln",
"transcript": "ENST00000884799.1",
"protein_id": "ENSP00000554858.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 852,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884799.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1822G>C",
"hgvs_p": "p.Glu608Gln",
"transcript": "ENST00000916171.1",
"protein_id": "ENSP00000586230.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 742,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916171.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1816G>C",
"hgvs_p": "p.Glu606Gln",
"transcript": "NM_001385986.1",
"protein_id": "NP_001372915.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 740,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385986.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1816G>C",
"hgvs_p": "p.Glu606Gln",
"transcript": "ENST00000916174.1",
"protein_id": "ENSP00000586233.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 740,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916174.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1678G>C",
"hgvs_p": "p.Glu560Gln",
"transcript": "NM_001385987.1",
"protein_id": "NP_001372916.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 694,
"cds_start": 1678,
"cds_end": null,
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{
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{
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"3_prime_UTR_variant"
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"gene_symbol": "PXN",
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],
"gene_symbol": "PXN",
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"dbsnp": "rs748158341",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84977e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8697794675827026,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.828,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9286,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.737,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.08,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001385981.1",
"gene_symbol": "PXN",
"hgnc_id": 9718,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2839G>C",
"hgvs_p": "p.Glu947Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}