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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: 2-74465163-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74465163&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74465163,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000448666.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Arg29Gly",
"transcript": "NM_006302.3",
"protein_id": "NP_006293.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 837,
"cds_start": 85,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": "ENST00000448666.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Arg29Gly",
"transcript": "ENST00000448666.7",
"protein_id": "ENSP00000410992.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 837,
"cds_start": 85,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": "NM_006302.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.-59+151C>G",
"hgvs_p": null,
"transcript": "ENST00000452063.7",
"protein_id": "ENSP00000388201.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Arg29Gly",
"transcript": "ENST00000690565.1",
"protein_id": "ENSP00000510501.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 739,
"cds_start": 85,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Arg29Gly",
"transcript": "ENST00000691308.1",
"protein_id": "ENSP00000509583.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 479,
"cds_start": 85,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Arg29Gly",
"transcript": "ENST00000650523.1",
"protein_id": "ENSP00000497143.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 427,
"cds_start": 85,
"cds_end": null,
"cds_length": 1285,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Arg29Gly",
"transcript": "ENST00000649075.1",
"protein_id": "ENSP00000497836.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 294,
"cds_start": 85,
"cds_end": null,
"cds_length": 885,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Arg29Gly",
"transcript": "ENST00000409065.5",
"protein_id": "ENSP00000386493.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 209,
"cds_start": 85,
"cds_end": null,
"cds_length": 630,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2668,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "n.238C>G",
"hgvs_p": null,
"transcript": "ENST00000486036.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 811,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"transcript": "ENST00000647723.1",
"protein_id": "ENSP00000497924.1",
"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": 2606,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "n.85C>G",
"hgvs_p": null,
"transcript": "ENST00000647753.1",
"protein_id": "ENSP00000497318.1",
"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": 2445,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "n.85C>G",
"hgvs_p": null,
"transcript": "ENST00000647771.1",
"protein_id": "ENSP00000496788.1",
"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": 2469,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "n.165C>G",
"hgvs_p": null,
"transcript": "ENST00000648768.1",
"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": 2862,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "n.121C>G",
"hgvs_p": null,
"transcript": "ENST00000649777.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2775,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.-59+151C>G",
"hgvs_p": null,
"transcript": "NM_001146158.2",
"protein_id": "NP_001139630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
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"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.-247+151C>G",
"hgvs_p": null,
"transcript": "ENST00000462443.2",
"protein_id": "ENSP00000497265.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
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"cds_length": 1689,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.-192+151C>G",
"hgvs_p": null,
"transcript": "ENST00000648810.1",
"protein_id": "ENSP00000496949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
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"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.-6+151C>G",
"hgvs_p": null,
"transcript": "ENST00000414701.1",
"protein_id": "ENSP00000396298.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.-59+151C>G",
"hgvs_p": null,
"transcript": "ENST00000649601.1",
"protein_id": "ENSP00000496796.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "n.-59+151C>G",
"hgvs_p": null,
"transcript": "ENST00000647915.1",
"protein_id": "ENSP00000498123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"hgvs_c": "c.-3C>G",
"hgvs_p": null,
"transcript": "ENST00000649854.1",
"protein_id": "ENSP00000496797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2304,
"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": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286883",
"gene_hgnc_id": null,
"hgvs_c": "n.-176G>C",
"hgvs_p": null,
"transcript": "ENST00000656025.1",
"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": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MOGS",
"gene_hgnc_id": 24862,
"dbsnp": "rs369653963",
"frequency_reference_population": 0.00049584056,
"hom_count_reference_population": 6,
"allele_count_reference_population": 759,
"gnomad_exomes_af": 0.000479516,
"gnomad_genomes_af": 0.000643627,
"gnomad_exomes_ac": 661,
"gnomad_genomes_ac": 98,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004206836223602295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0706,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.448,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000448666.7",
"gene_symbol": "MOGS",
"hgnc_id": 24862,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Arg29Gly"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000656025.1",
"gene_symbol": "ENSG00000286883",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-176G>C",
"hgvs_p": null
}
],
"clinvar_disease": "MOGS-congenital disorder of glycosylation,MOGS-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "MOGS-congenital disorder of glycosylation|not specified|not provided|MOGS-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}