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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: 12-68856483-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68856483&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68856483,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001413387.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "NM_198320.5",
"protein_id": "NP_938079.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 6627,
"mane_select": "ENST00000551568.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198320.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000551568.6",
"protein_id": "ENSP00000448517.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 6627,
"mane_select": "NM_198320.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551568.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000338356.7",
"protein_id": "ENSP00000339157.3",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338356.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000546373.5",
"protein_id": "ENSP00000447255.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546373.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1352G>C",
"hgvs_p": "p.Ser451Thr",
"transcript": "ENST00000894617.1",
"protein_id": "ENSP00000564676.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 465,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894617.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1322G>C",
"hgvs_p": "p.Ser441Thr",
"transcript": "NM_001413387.1",
"protein_id": "NP_001400316.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 455,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 6663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413387.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1322G>C",
"hgvs_p": "p.Ser441Thr",
"transcript": "ENST00000894616.1",
"protein_id": "ENSP00000564675.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 455,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894616.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "NM_001005502.3",
"protein_id": "NP_001005502.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 6637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005502.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "NM_001413388.1",
"protein_id": "NP_001400317.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413388.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "NM_001413389.1",
"protein_id": "NP_001400318.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 6627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413389.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "NM_001413390.1",
"protein_id": "NP_001400319.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 6654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413390.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "NM_001413391.1",
"protein_id": "NP_001400320.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413391.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "NM_001874.5",
"protein_id": "NP_001865.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 6898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001874.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000894614.1",
"protein_id": "ENSP00000564673.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894614.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000894615.1",
"protein_id": "ENSP00000564674.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894615.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000961569.1",
"protein_id": "ENSP00000631628.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961569.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000961570.1",
"protein_id": "ENSP00000631629.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961570.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000961572.1",
"protein_id": "ENSP00000631631.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961572.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000961573.1",
"protein_id": "ENSP00000631632.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961573.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1286G>C",
"hgvs_p": "p.Ser429Thr",
"transcript": "ENST00000961574.1",
"protein_id": "ENSP00000631633.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 443,
"cds_start": 1286,
"cds_end": null,
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"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961574.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1277G>C",
"hgvs_p": "p.Ser426Thr",
"transcript": "ENST00000961575.1",
"protein_id": "ENSP00000631634.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 440,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961575.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.1163G>C",
"hgvs_p": "p.Ser388Thr",
"transcript": "NM_001413392.1",
"protein_id": "NP_001400321.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 402,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1393,
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"dbsnp": "rs150803446",
"frequency_reference_population": 0.00009726843,
"hom_count_reference_population": 0,
"allele_count_reference_population": 157,
"gnomad_exomes_af": 0.0000998782,
"gnomad_genomes_af": 0.0000722211,
"gnomad_exomes_ac": 146,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025946706533432007,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0694,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.738,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001413387.1",
"gene_symbol": "CPM",
"hgnc_id": 2311,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1322G>C",
"hgvs_p": "p.Ser441Thr"
}
],
"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
}