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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: 2-73730026-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73730026&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73730026,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001330386.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "NM_016058.5",
"protein_id": "NP_057142.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 445,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272424.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016058.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "ENST00000272424.11",
"protein_id": "ENSP00000272424.5",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 445,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016058.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272424.11"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "NM_001330386.2",
"protein_id": "NP_001317315.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330386.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "NM_001330387.2",
"protein_id": "NP_001317316.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330387.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000318190.7",
"protein_id": "ENSP00000325398.7",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318190.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000409716.6",
"protein_id": "ENSP00000386936.2",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409716.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000904806.1",
"protein_id": "ENSP00000574865.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904806.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000904807.1",
"protein_id": "ENSP00000574866.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904807.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000904810.1",
"protein_id": "ENSP00000574869.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904810.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000939338.1",
"protein_id": "ENSP00000609397.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939338.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000939345.1",
"protein_id": "ENSP00000609404.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939345.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000939352.1",
"protein_id": "ENSP00000609411.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939352.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000939354.1",
"protein_id": "ENSP00000609413.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939354.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Tyr188His",
"transcript": "ENST00000939361.1",
"protein_id": "ENSP00000609420.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 562,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939361.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.511T>C",
"hgvs_p": "p.Tyr171His",
"transcript": "ENST00000939363.1",
"protein_id": "ENSP00000609422.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 197,
"cds_start": 511,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939363.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Tyr155His",
"transcript": "ENST00000939344.1",
"protein_id": "ENSP00000609403.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 181,
"cds_start": 463,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939344.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Tyr155His",
"transcript": "ENST00000939350.1",
"protein_id": "ENSP00000609409.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 181,
"cds_start": 463,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939350.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "NM_001330388.2",
"protein_id": "NP_001317317.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 445,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330388.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "NM_001330389.2",
"protein_id": "NP_001317318.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 445,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330389.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "ENST00000904805.1",
"protein_id": "ENSP00000574864.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 445,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904805.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "ENST00000904808.1",
"protein_id": "ENSP00000574867.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 445,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904808.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "ENST00000904809.1",
"protein_id": "ENSP00000574868.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 445,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904809.1"
},
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{
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],
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"dbsnp": "rs754783287",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.9160447120666504,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.576,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4221,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.025,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001330386.2",
"gene_symbol": "TPRKB",
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"effects": [
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],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.562T>C",
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],
"clinvar_disease": "Galloway-Mowat syndrome 5",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Galloway-Mowat syndrome 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}