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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: 9-132896343-GG-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132896343&ref=GG&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TSC1",
"hgnc_id": 12362,
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000368.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000368.5",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298552.9",
"protein_coding": true,
"protein_id": "NP_000359.1",
"strand": false,
"transcript": "NM_000368.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000298552.9",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000368.5",
"protein_coding": true,
"protein_id": "ENSP00000298552.3",
"strand": false,
"transcript": "ENST00000298552.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8690,
"cdna_start": 3696,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490179.4",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495533.2",
"strand": false,
"transcript": "ENST00000490179.4",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8569,
"cdna_start": 3575,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406592.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393521.1",
"strand": false,
"transcript": "NM_001406592.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8594,
"cdna_start": 3600,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406593.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393522.1",
"strand": false,
"transcript": "NM_001406593.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8817,
"cdna_start": 3823,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406594.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393523.1",
"strand": false,
"transcript": "NM_001406594.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8788,
"cdna_start": 3794,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406595.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393524.1",
"strand": false,
"transcript": "NM_001406595.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8535,
"cdna_start": 3541,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406596.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393525.1",
"strand": false,
"transcript": "NM_001406596.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6591,
"cdna_start": 3601,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643875.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495158.1",
"strand": false,
"transcript": "ENST00000643875.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8715,
"cdna_start": 3721,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646440.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495830.2",
"strand": false,
"transcript": "ENST00000646440.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8582,
"cdna_start": 3592,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646625.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3386_3387delCCinsAT",
"hgvs_p": "p.Ala1129Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496263.1",
"strand": false,
"transcript": "ENST00000646625.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8595,
"cdna_start": 3601,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001162426.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001155898.1",
"strand": false,
"transcript": "NM_001162426.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8566,
"cdna_start": 3572,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406597.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393526.1",
"strand": false,
"transcript": "NM_001406597.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8591,
"cdna_start": 3597,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406598.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393527.1",
"strand": false,
"transcript": "NM_001406598.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8814,
"cdna_start": 3820,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406599.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393528.1",
"strand": false,
"transcript": "NM_001406599.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8785,
"cdna_start": 3791,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406600.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393529.1",
"strand": false,
"transcript": "NM_001406600.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8535,
"cdna_start": 3541,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475903.7",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496126.2",
"strand": false,
"transcript": "ENST00000475903.7",
"transcript_support_level": 4
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": 3608,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642617.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493773.1",
"strand": false,
"transcript": "ENST00000642617.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8715,
"cdna_start": 3725,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644097.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494682.1",
"strand": false,
"transcript": "ENST00000644097.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": 3597,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911226.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.3383_3384delCCinsAT",
"hgvs_p": "p.Ala1128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581285.1",
"strand": false,
"transcript": "ENST00000911226.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 3582,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 23,
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