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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: 11-66828311-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66828311&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66828311,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024650.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "NM_001302084.2",
"protein_id": "NP_001289013.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 511,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000540737.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302084.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000540737.7",
"protein_id": "ENSP00000444319.1",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 511,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001302084.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540737.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Arg347Cys",
"transcript": "ENST00000525449.6",
"protein_id": "ENSP00000434648.2",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 485,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525449.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Arg490Cys",
"transcript": "NM_024650.4",
"protein_id": "NP_078926.4",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 628,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024650.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Arg490Cys",
"transcript": "ENST00000525908.6",
"protein_id": "ENSP00000432039.3",
"transcript_support_level": 2,
"aa_start": 490,
"aa_end": null,
"aa_length": 628,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525908.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1327C>T",
"hgvs_p": "p.Arg443Cys",
"transcript": "ENST00000901160.1",
"protein_id": "ENSP00000571219.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 581,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901160.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "ENST00000642265.1",
"protein_id": "ENSP00000494645.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 577,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642265.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Cys",
"transcript": "ENST00000901173.1",
"protein_id": "ENSP00000571232.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 541,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901173.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901148.1",
"protein_id": "ENSP00000571207.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901148.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901149.1",
"protein_id": "ENSP00000571208.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901149.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901159.1",
"protein_id": "ENSP00000571218.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901159.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901167.1",
"protein_id": "ENSP00000571226.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901167.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901168.1",
"protein_id": "ENSP00000571227.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901168.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901178.1",
"protein_id": "ENSP00000571237.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901178.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901180.1",
"protein_id": "ENSP00000571239.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901180.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901182.1",
"protein_id": "ENSP00000571241.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901182.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000914058.1",
"protein_id": "ENSP00000584117.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 512,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914058.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901150.1",
"protein_id": "ENSP00000571209.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 511,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901150.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373Cys",
"transcript": "ENST00000901152.1",
"protein_id": "ENSP00000571211.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 511,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901152.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901161.1",
"protein_id": "ENSP00000571220.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 511,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901161.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373Cys",
"transcript": "ENST00000901163.1",
"protein_id": "ENSP00000571222.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 511,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901163.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901169.1",
"protein_id": "ENSP00000571228.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 511,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024650.4",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}