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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: 1-154170442-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154170442&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154170442,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152263.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "NM_152263.4",
"protein_id": "NP_689476.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 285,
"cds_start": 733,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651641.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152263.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "ENST00000651641.1",
"protein_id": "ENSP00000498577.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 285,
"cds_start": 733,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651641.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "ENST00000368530.7",
"protein_id": "ENSP00000357516.3",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 285,
"cds_start": 733,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368530.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "ENST00000330188.13",
"protein_id": "ENSP00000339035.7",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 248,
"cds_start": 622,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330188.13"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "ENST00000368533.8",
"protein_id": "ENSP00000357521.3",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 248,
"cds_start": 622,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368533.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "ENST00000368531.6",
"protein_id": "ENSP00000357517.2",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 247,
"cds_start": 622,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368531.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.622A>G",
"hgvs_p": null,
"transcript": "ENST00000341485.10",
"protein_id": "ENSP00000341653.6",
"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": "nonsense_mediated_decay",
"feature": "ENST00000341485.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.740A>G",
"hgvs_p": null,
"transcript": "ENST00000368545.7",
"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": "retained_intron",
"feature": "ENST00000368545.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Arg270Gly",
"transcript": "ENST00000960967.1",
"protein_id": "ENSP00000631026.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 310,
"cds_start": 808,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960967.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Arg269Gly",
"transcript": "ENST00000960966.1",
"protein_id": "ENSP00000631025.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 309,
"cds_start": 805,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960966.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "NM_001364679.2",
"protein_id": "NP_001351608.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 285,
"cds_start": 733,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364679.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "NM_001364680.2",
"protein_id": "NP_001351609.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 285,
"cds_start": 733,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364680.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "NM_001364682.1",
"protein_id": "NP_001351611.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 285,
"cds_start": 733,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364682.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "ENST00000271850.11",
"protein_id": "ENSP00000271850.7",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 285,
"cds_start": 733,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271850.11"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "NM_001364681.2",
"protein_id": "NP_001351610.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 284,
"cds_start": 733,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364681.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Arg243Gly",
"transcript": "ENST00000960964.1",
"protein_id": "ENSP00000631023.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 283,
"cds_start": 727,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960964.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Arg243Gly",
"transcript": "ENST00000960965.1",
"protein_id": "ENSP00000631024.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 283,
"cds_start": 727,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960965.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "NM_001043351.2",
"protein_id": "NP_001036816.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 248,
"cds_start": 622,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001043351.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "NM_001278189.2",
"protein_id": "NP_001265118.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 248,
"cds_start": 622,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278189.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "NM_001349679.2",
"protein_id": "NP_001336608.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 248,
"cds_start": 622,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349679.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "NM_001364683.1",
"protein_id": "NP_001351612.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 248,
"cds_start": 622,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364683.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "NM_153649.4",
"protein_id": "NP_705935.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 248,
"cds_start": 622,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153649.4"
},
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"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": 0.931082010269165,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.94,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.95,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.278,
"phylop100way_prediction": "Uncertain_significance",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_152263.4",
"gene_symbol": "TPM3",
"hgnc_id": 12012,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AD,AR",
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Arg245Gly"
}
],
"clinvar_disease": "Congenital myopathy with fiber type disproportion,not provided",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:2",
"phenotype_combined": "Congenital myopathy with fiber type disproportion|not provided",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}