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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: 2-201133071-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201133071&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201133071,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003879.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "NM_003879.7",
"protein_id": "NP_003870.4",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309955.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003879.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000309955.8",
"protein_id": "ENSP00000312455.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003879.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309955.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000423241.6",
"protein_id": "ENSP00000399420.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423241.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000457277.5",
"protein_id": "ENSP00000411535.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 462,
"cds_start": 324,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457277.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000341582.10",
"protein_id": "ENSP00000345807.6",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 445,
"cds_start": 324,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341582.10"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000395148.6",
"protein_id": "ENSP00000378580.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 250,
"cds_start": 324,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395148.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000341222.10",
"protein_id": "ENSP00000339335.6",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 221,
"cds_start": 324,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341222.10"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000440180.5",
"protein_id": "ENSP00000406775.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 221,
"cds_start": 324,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440180.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.324T>G",
"hgvs_p": null,
"transcript": "ENST00000439154.6",
"protein_id": "ENSP00000398551.2",
"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": "ENST00000439154.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000890675.1",
"protein_id": "ENSP00000560734.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 555,
"cds_start": 324,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890675.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000948379.1",
"protein_id": "ENSP00000618438.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 555,
"cds_start": 324,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948379.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000948374.1",
"protein_id": "ENSP00000618433.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 511,
"cds_start": 324,
"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": "ENST00000948374.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000948375.1",
"protein_id": "ENSP00000618434.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 510,
"cds_start": 324,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948375.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "NM_001127183.4",
"protein_id": "NP_001120655.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127183.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000890677.1",
"protein_id": "ENSP00000560736.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890677.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000890678.1",
"protein_id": "ENSP00000560737.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890678.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000890679.1",
"protein_id": "ENSP00000560738.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890679.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000890681.1",
"protein_id": "ENSP00000560740.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890681.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000948373.1",
"protein_id": "ENSP00000618432.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948373.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000948376.1",
"protein_id": "ENSP00000618435.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948376.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000948377.1",
"protein_id": "ENSP00000618436.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948377.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu",
"transcript": "ENST00000948380.1",
"protein_id": "ENSP00000618439.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 480,
"cds_start": 324,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948380.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
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],
"gene_symbol": "CFLAR",
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"dbsnp": "rs369789091",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11169826984405518,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.3504,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.674,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003879.7",
"gene_symbol": "CFLAR",
"hgnc_id": 1876,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.324T>G",
"hgvs_p": "p.Asp108Glu"
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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
}