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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: 3-52291039-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52291039&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52291039,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000436784.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "NM_145262.4",
"protein_id": "NP_660305.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 523,
"cds_start": 457,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": "ENST00000436784.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"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": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "ENST00000436784.7",
"protein_id": "ENSP00000389175.2",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 523,
"cds_start": 457,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": "NM_145262.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "ENST00000477382.1",
"protein_id": "ENSP00000419008.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 234,
"cds_start": 457,
"cds_end": null,
"cds_length": 705,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "ENST00000473032.5",
"protein_id": "ENSP00000418951.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 205,
"cds_start": 457,
"cds_end": null,
"cds_length": 618,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 935,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.726C>G",
"hgvs_p": null,
"transcript": "ENST00000473583.1",
"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": 1021,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.457C>G",
"hgvs_p": null,
"transcript": "ENST00000486393.5",
"protein_id": "ENSP00000419868.1",
"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": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "NM_001437621.1",
"protein_id": "NP_001424550.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 523,
"cds_start": 457,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.205C>G",
"hgvs_p": "p.Arg69Gly",
"transcript": "ENST00000461183.5",
"protein_id": "ENSP00000417264.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 283,
"cds_start": 205,
"cds_end": null,
"cds_length": 852,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Arg26Gly",
"transcript": "ENST00000471180.5",
"protein_id": "ENSP00000417526.1",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 240,
"cds_start": 76,
"cds_end": null,
"cds_length": 723,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "NM_001144951.2",
"protein_id": "NP_001138423.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 234,
"cds_start": 457,
"cds_end": null,
"cds_length": 705,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "NM_001437622.1",
"protein_id": "NP_001424551.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 234,
"cds_start": 457,
"cds_end": null,
"cds_length": 705,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "ENST00000305690.12",
"protein_id": "ENSP00000301965.9",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 234,
"cds_start": 457,
"cds_end": null,
"cds_length": 705,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Arg26Gly",
"transcript": "XM_017005730.2",
"protein_id": "XP_016861219.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 396,
"cds_start": 76,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "XM_047447465.1",
"protein_id": "XP_047303421.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 367,
"cds_start": 457,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Arg153Gly",
"transcript": "XM_047447466.1",
"protein_id": "XP_047303422.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 367,
"cds_start": 457,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Arg26Gly",
"transcript": "XM_047447467.1",
"protein_id": "XP_047303423.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 240,
"cds_start": 76,
"cds_end": null,
"cds_length": 723,
"cdna_start": 129,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.116C>G",
"hgvs_p": null,
"transcript": "ENST00000489173.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2083,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.545C>G",
"hgvs_p": null,
"transcript": "NR_026699.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3793,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.129C>G",
"hgvs_p": null,
"transcript": "NR_026700.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.545C>G",
"hgvs_p": null,
"transcript": "NR_026701.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.545C>G",
"hgvs_p": null,
"transcript": "NR_026702.2",
"protein_id": null,
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"cds_start": -4,
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"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.545C>G",
"hgvs_p": null,
"transcript": "NR_199363.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4426,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.129C>G",
"hgvs_p": null,
"transcript": "NR_199364.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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}
],
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"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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"intron_variant"
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"inheritance_mode": "",
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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
}