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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: 22-36758324-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36758324&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36758324,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001177701.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Arg183Pro",
"transcript": "NM_001177701.3",
"protein_id": "NP_001171172.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 186,
"cds_start": 548,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000433985.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177701.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Arg183Pro",
"transcript": "ENST00000433985.7",
"protein_id": "ENSP00000393541.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 186,
"cds_start": 548,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001177701.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433985.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Arg182Pro",
"transcript": "ENST00000340630.9",
"protein_id": "ENSP00000343593.5",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 185,
"cds_start": 545,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340630.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.662G>C",
"hgvs_p": "p.Arg221Pro",
"transcript": "ENST00000916904.1",
"protein_id": "ENSP00000586963.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 224,
"cds_start": 662,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916904.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.656G>C",
"hgvs_p": "p.Arg219Pro",
"transcript": "ENST00000867617.1",
"protein_id": "ENSP00000537676.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 222,
"cds_start": 656,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867617.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.551G>C",
"hgvs_p": "p.Arg184Pro",
"transcript": "ENST00000867618.1",
"protein_id": "ENSP00000537677.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 187,
"cds_start": 551,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867618.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Arg183Pro",
"transcript": "NM_001363003.2",
"protein_id": "NP_001349932.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 186,
"cds_start": 548,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363003.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Arg183Pro",
"transcript": "ENST00000916899.1",
"protein_id": "ENSP00000586958.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 186,
"cds_start": 548,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916899.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Arg182Pro",
"transcript": "NM_006860.5",
"protein_id": "NP_006851.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 185,
"cds_start": 545,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006860.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Arg182Pro",
"transcript": "ENST00000916900.1",
"protein_id": "ENSP00000586959.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 185,
"cds_start": 545,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916900.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Arg182Pro",
"transcript": "ENST00000916901.1",
"protein_id": "ENSP00000586960.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 185,
"cds_start": 545,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916901.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro",
"transcript": "ENST00000916905.1",
"protein_id": "ENSP00000586964.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 184,
"cds_start": 542,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916905.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Arg163Pro",
"transcript": "ENST00000867616.1",
"protein_id": "ENSP00000537675.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 166,
"cds_start": 488,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867616.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.434G>C",
"hgvs_p": "p.Arg145Pro",
"transcript": "ENST00000916902.1",
"protein_id": "ENSP00000586961.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 148,
"cds_start": 434,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916902.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Arg87Pro",
"transcript": "ENST00000916903.1",
"protein_id": "ENSP00000586962.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 90,
"cds_start": 260,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916903.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "c.438G>C",
"hgvs_p": "p.Pro146Pro",
"transcript": "XM_047441074.1",
"protein_id": "XP_047297030.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 177,
"cds_start": 438,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441074.1"
},
{
"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": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "n.*159G>C",
"hgvs_p": null,
"transcript": "ENST00000415653.5",
"protein_id": "ENSP00000404556.1",
"transcript_support_level": 5,
"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": "ENST00000415653.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "n.6362G>C",
"hgvs_p": null,
"transcript": "ENST00000471809.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000471809.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "n.345G>C",
"hgvs_p": null,
"transcript": "ENST00000474616.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000474616.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "n.631G>C",
"hgvs_p": null,
"transcript": "ENST00000495555.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000495555.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "n.248G>C",
"hgvs_p": null,
"transcript": "ENST00000495987.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000495987.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT27",
"gene_hgnc_id": 18626,
"hgvs_c": "n.*159G>C",
"hgvs_p": null,
"transcript": "ENST00000415653.5",
"protein_id": "ENSP00000404556.1",
"transcript_support_level": 5,
"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": "ENST00000415653.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"biotype": "pseudogene",
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}
],
"gene_symbol": "IFT27",
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"dbsnp": "rs140440023",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.09235981106758118,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.616,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001177701.3",
"gene_symbol": "IFT27",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg183Pro"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_134623.1",
"gene_symbol": "CACNG2-DT",
"hgnc_id": 55682,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238-8020C>G",
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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
}