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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: 20-1921613-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1921613&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1921613,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001330728.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "NM_001040023.2",
"protein_id": "NP_001035112.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358771.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040023.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000358771.5",
"protein_id": "ENSP00000351621.4",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040023.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358771.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000356025.7",
"protein_id": "ENSP00000348307.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356025.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000400068.7",
"protein_id": "ENSP00000382941.4",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400068.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000964294.1",
"protein_id": "ENSP00000634353.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 543,
"cds_start": 655,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964294.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889460.1",
"protein_id": "ENSP00000559519.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 539,
"cds_start": 655,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889460.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889443.1",
"protein_id": "ENSP00000559502.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 530,
"cds_start": 655,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889443.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "NM_001330728.1",
"protein_id": "NP_001317657.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 508,
"cds_start": 655,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330728.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000622179.4",
"protein_id": "ENSP00000478763.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 508,
"cds_start": 655,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622179.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889446.1",
"protein_id": "ENSP00000559505.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 508,
"cds_start": 655,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889446.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889452.1",
"protein_id": "ENSP00000559511.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 508,
"cds_start": 655,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889452.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889456.1",
"protein_id": "ENSP00000559515.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 508,
"cds_start": 655,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889456.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889463.1",
"protein_id": "ENSP00000559522.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 508,
"cds_start": 655,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889463.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889464.1",
"protein_id": "ENSP00000559523.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 508,
"cds_start": 655,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889464.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000964296.1",
"protein_id": "ENSP00000634355.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 508,
"cds_start": 655,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964296.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "NM_001040022.1",
"protein_id": "NP_001035111.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040022.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "NM_080792.3",
"protein_id": "NP_542970.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080792.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889444.1",
"protein_id": "ENSP00000559503.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889444.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889445.1",
"protein_id": "ENSP00000559504.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889445.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889458.1",
"protein_id": "ENSP00000559517.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889458.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000889459.1",
"protein_id": "ENSP00000559518.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 655,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889459.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPA",
"gene_hgnc_id": 9662,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000889455.1",
"protein_id": "ENSP00000559514.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 488,
"cds_start": 595,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889455.1"
},
{
"aa_ref": "R",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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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
}