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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: 13-46055809-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=46055809&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 46055809,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001872.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "NM_001872.5",
"protein_id": "NP_001863.3",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 423,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000181383.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001872.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000181383.10",
"protein_id": "ENSP00000181383.4",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 423,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001872.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000181383.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1142T>C",
"hgvs_p": "p.Ile381Thr",
"transcript": "ENST00000882332.1",
"protein_id": "ENSP00000552391.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 457,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882332.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1088T>C",
"hgvs_p": "p.Ile363Thr",
"transcript": "ENST00000882315.1",
"protein_id": "ENSP00000552374.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 439,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882315.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1082T>C",
"hgvs_p": "p.Ile361Thr",
"transcript": "ENST00000882319.1",
"protein_id": "ENSP00000552378.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 437,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882319.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Ile355Thr",
"transcript": "ENST00000882325.1",
"protein_id": "ENSP00000552384.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 431,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882325.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Ile348Thr",
"transcript": "ENST00000882322.1",
"protein_id": "ENSP00000552381.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 424,
"cds_start": 1043,
"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": "ENST00000882322.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1034T>C",
"hgvs_p": "p.Ile345Thr",
"transcript": "ENST00000882327.1",
"protein_id": "ENSP00000552386.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 421,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882327.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000882328.1",
"protein_id": "ENSP00000552387.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 421,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882328.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.1025T>C",
"hgvs_p": "p.Ile342Thr",
"transcript": "ENST00000882320.1",
"protein_id": "ENSP00000552379.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 418,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882320.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Ile326Thr",
"transcript": "ENST00000882326.1",
"protein_id": "ENSP00000552385.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 402,
"cds_start": 977,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882326.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.953T>C",
"hgvs_p": "p.Ile318Thr",
"transcript": "ENST00000882333.1",
"protein_id": "ENSP00000552392.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 394,
"cds_start": 953,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882333.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.938T>C",
"hgvs_p": "p.Ile313Thr",
"transcript": "ENST00000882317.1",
"protein_id": "ENSP00000552376.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 389,
"cds_start": 938,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882317.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "NM_001278541.2",
"protein_id": "NP_001265470.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 386,
"cds_start": 929,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278541.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "ENST00000439329.5",
"protein_id": "ENSP00000400714.3",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 386,
"cds_start": 929,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439329.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Ile308Thr",
"transcript": "ENST00000882334.1",
"protein_id": "ENSP00000552393.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 384,
"cds_start": 923,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882334.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.914T>C",
"hgvs_p": "p.Ile305Thr",
"transcript": "ENST00000882331.1",
"protein_id": "ENSP00000552390.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 381,
"cds_start": 914,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882331.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Ile280Thr",
"transcript": "ENST00000882323.1",
"protein_id": "ENSP00000552382.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 356,
"cds_start": 839,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882323.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Ile278Thr",
"transcript": "ENST00000882321.1",
"protein_id": "ENSP00000552380.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 354,
"cds_start": 833,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882321.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.827T>C",
"hgvs_p": "p.Ile276Thr",
"transcript": "ENST00000882324.1",
"protein_id": "ENSP00000552383.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 352,
"cds_start": 827,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882324.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.806T>C",
"hgvs_p": "p.Ile269Thr",
"transcript": "ENST00000882318.1",
"protein_id": "ENSP00000552377.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 345,
"cds_start": 806,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882318.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "ENST00000882330.1",
"protein_id": "ENSP00000552389.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 308,
"cds_start": 695,
"cds_end": null,
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{
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{
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{
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],
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"computational_score_selected": 8.329295724252006e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.873,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -13,
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"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001872.5",
"gene_symbol": "CPB2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -13,
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"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000606243.7",
"gene_symbol": "CPB2-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "CPB2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CPB2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}