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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: 2-147958805-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=147958805&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 147958805,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000392857.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "NM_181741.4",
"protein_id": "NP_859525.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "ENST00000392857.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "ENST00000392857.10",
"protein_id": "ENSP00000376597.5",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "NM_181741.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "NM_001190879.3",
"protein_id": "NP_001177808.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "NM_001374270.1",
"protein_id": "NP_001361199.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "NM_002552.5",
"protein_id": "NP_002543.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "NM_181742.4",
"protein_id": "NP_859526.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 6546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "ENST00000264169.6",
"protein_id": "ENSP00000264169.2",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "ENST00000535373.5",
"protein_id": "ENSP00000441953.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 6710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Gln22Arg",
"transcript": "NM_001190882.3",
"protein_id": "NP_001177811.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 362,
"cds_start": 65,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 6473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Gln22Arg",
"transcript": "ENST00000540442.5",
"protein_id": "ENSP00000438326.1",
"transcript_support_level": 2,
"aa_start": 22,
"aa_end": null,
"aa_length": 362,
"cds_start": 65,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 6472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Gln12Arg",
"transcript": "NM_001190881.3",
"protein_id": "NP_001177810.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 352,
"cds_start": 35,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Gln12Arg",
"transcript": "NM_001374272.1",
"protein_id": "NP_001361201.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 352,
"cds_start": 35,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 6612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Gln12Arg",
"transcript": "ENST00000536575.5",
"protein_id": "ENSP00000441502.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 352,
"cds_start": 35,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "ENST00000416719.5",
"protein_id": "ENSP00000413939.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 144,
"cds_start": 287,
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"cdna_start": 422,
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"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "ENST00000457954.5",
"protein_id": "ENSP00000391484.1",
"transcript_support_level": 4,
"aa_start": 96,
"aa_end": null,
"aa_length": 127,
"cds_start": 287,
"cds_end": null,
"cds_length": 384,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "ENST00000440042.1",
"protein_id": "ENSP00000403105.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 126,
"cds_start": 287,
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"cds_length": 382,
"cdna_start": 457,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "XM_011511255.3",
"protein_id": "XP_011509557.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 436,
"cds_start": 287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "XM_047444573.1",
"protein_id": "XP_047300529.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 357,
"cds_start": 287,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
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"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.191A>G",
"hgvs_p": null,
"transcript": "ENST00000461711.5",
"protein_id": null,
"transcript_support_level": 4,
"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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"mane_select": null,
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"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.361A>G",
"hgvs_p": null,
"transcript": "ENST00000490200.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 563,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.398A>G",
"hgvs_p": null,
"transcript": "ENST00000495601.1",
"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": 611,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.153A>G",
"hgvs_p": null,
"transcript": "ENST00000496670.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"dbsnp": "rs138317624",
"frequency_reference_population": 0.00017211161,
"hom_count_reference_population": 2,
"allele_count_reference_population": 251,
"gnomad_exomes_af": 0.000153107,
"gnomad_genomes_af": 0.000335359,
"gnomad_exomes_ac": 200,
"gnomad_genomes_ac": 51,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010275393724441528,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.473,
"phylop100way_prediction": "Uncertain_significance",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000392857.10",
"gene_symbol": "ORC4",
"hgnc_id": 8490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg"
}
],
"clinvar_disease": "Meier-Gorlin syndrome 2,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "Meier-Gorlin syndrome 2|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}