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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: 2-201140405-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201140405&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201140405,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000309955.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "NM_003879.7",
"protein_id": "NP_003870.4",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 480,
"cds_start": 572,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 14612,
"mane_select": "ENST00000309955.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "ENST00000309955.8",
"protein_id": "ENSP00000312455.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 480,
"cds_start": 572,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 14612,
"mane_select": "NM_003879.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "ENST00000423241.6",
"protein_id": "ENSP00000399420.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 480,
"cds_start": 572,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "ENST00000457277.5",
"protein_id": "ENSP00000411535.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 462,
"cds_start": 572,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "ENST00000341582.10",
"protein_id": "ENSP00000345807.6",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 445,
"cds_start": 572,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "ENST00000341222.10",
"protein_id": "ENSP00000339335.6",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 221,
"cds_start": 572,
"cds_end": null,
"cds_length": 666,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "ENST00000440180.5",
"protein_id": "ENSP00000406775.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 221,
"cds_start": 572,
"cds_end": null,
"cds_length": 666,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR-AS1",
"gene_hgnc_id": 14437,
"hgvs_c": "n.956T>C",
"hgvs_p": null,
"transcript": "ENST00000415011.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.572A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.220A>G",
"hgvs_p": null,
"transcript": "ENST00000474842.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "NM_001127183.4",
"protein_id": "NP_001120655.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 480,
"cds_start": 572,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 14480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "NM_001308042.3",
"protein_id": "NP_001294971.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 462,
"cds_start": 572,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 11686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "NM_001351590.2",
"protein_id": "NP_001338519.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 462,
"cds_start": 572,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 11448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "NM_001202516.3",
"protein_id": "NP_001189445.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 445,
"cds_start": 572,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 14507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Gln95Arg",
"transcript": "NM_001202517.3",
"protein_id": "NP_001189446.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 384,
"cds_start": 284,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 14194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Gln95Arg",
"transcript": "NM_001351593.2",
"protein_id": "NP_001338522.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 384,
"cds_start": 284,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 14062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Gln95Arg",
"transcript": "NM_001351594.2",
"protein_id": "NP_001338523.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 384,
"cds_start": 284,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 14341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Gln95Arg",
"transcript": "ENST00000443227.5",
"protein_id": "ENSP00000413270.1",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 384,
"cds_start": 284,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.284A>G",
"hgvs_p": "p.Gln95Arg",
"transcript": "NM_001202518.2",
"protein_id": "NP_001189447.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 366,
"cds_start": 284,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 10960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Gln95Arg",
"transcript": "NM_001202519.3",
"protein_id": "NP_001189448.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 366,
"cds_start": 284,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 11030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.284A>G",
"hgvs_p": "p.Gln95Arg",
"transcript": "ENST00000479953.6",
"protein_id": "ENSP00000471805.1",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 366,
"cds_start": 284,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "ENST00000342795.9",
"protein_id": "ENSP00000342809.5",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 292,
"cds_start": 572,
"cds_end": null,
"cds_length": 879,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg",
"transcript": "NM_001127184.4",
"protein_id": "NP_001120656.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 221,
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},
{
"aa_ref": null,
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"canonical": false,
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"intron_variant"
],
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"gene_symbol": "CFLAR",
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}
],
"gene_symbol": "CFLAR",
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"dbsnp": "rs768478784",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.050255656242370605,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0794,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.014,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000309955.8",
"gene_symbol": "CFLAR",
"hgnc_id": 1876,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Gln191Arg"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000415011.6",
"gene_symbol": "CFLAR-AS1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.956T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}