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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: 9-128908178-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128908178&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128908178,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_019594.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "NM_019594.4",
"protein_id": "NP_062540.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "ENST00000372600.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019594.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000372600.9",
"protein_id": "ENSP00000361682.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "NM_019594.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372600.9"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000372599.7",
"protein_id": "ENSP00000361680.3",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372599.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000927475.1",
"protein_id": "ENSP00000597534.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 838,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927475.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "NM_001127244.2",
"protein_id": "NP_001120716.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127244.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "NM_001127245.2",
"protein_id": "NP_001120717.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127245.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000259324.5",
"protein_id": "ENSP00000259324.5",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259324.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867202.1",
"protein_id": "ENSP00000537261.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867202.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867203.1",
"protein_id": "ENSP00000537262.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867203.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867204.1",
"protein_id": "ENSP00000537263.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867204.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867205.1",
"protein_id": "ENSP00000537264.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867205.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867206.1",
"protein_id": "ENSP00000537265.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867206.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867207.1",
"protein_id": "ENSP00000537266.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867207.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867208.1",
"protein_id": "ENSP00000537267.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867208.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867209.1",
"protein_id": "ENSP00000537268.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867209.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867210.1",
"protein_id": "ENSP00000537269.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867210.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867211.1",
"protein_id": "ENSP00000537270.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867211.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867212.1",
"protein_id": "ENSP00000537271.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867212.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867213.1",
"protein_id": "ENSP00000537272.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867213.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000867214.1",
"protein_id": "ENSP00000537273.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867214.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000927466.1",
"protein_id": "ENSP00000597525.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 810,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927466.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
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"bayesdelnoaf_score": -0.63,
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"phylop100way_prediction": "Benign",
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{
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"criteria": [
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"verdict": "Benign",
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"inheritance_mode": "AD,Unknown",
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],
"clinvar_disease": " autosomal dominant,Agammaglobulinemia 5,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|not provided|Agammaglobulinemia 5, autosomal dominant",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}