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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: 6-43184802-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43184802&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43184802,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015089.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "NM_015089.4",
"protein_id": "NP_055904.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2517,
"cds_start": 492,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": "ENST00000252050.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "ENST00000252050.9",
"protein_id": "ENSP00000252050.4",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 2517,
"cds_start": 492,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": "NM_015089.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "ENST00000372647.6",
"protein_id": "ENSP00000361730.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 2489,
"cds_start": 492,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_011514422.2",
"protein_id": "XP_011512724.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2566,
"cds_start": 492,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_011514423.3",
"protein_id": "XP_011512725.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2566,
"cds_start": 492,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 8003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_017010589.2",
"protein_id": "XP_016866078.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2566,
"cds_start": 492,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 8745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_011514424.2",
"protein_id": "XP_011512726.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2539,
"cds_start": 492,
"cds_end": null,
"cds_length": 7620,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_047418475.1",
"protein_id": "XP_047274431.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2517,
"cds_start": 492,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_047418476.1",
"protein_id": "XP_047274432.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2490,
"cds_start": 492,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_011514425.2",
"protein_id": "XP_011512727.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2456,
"cds_start": 492,
"cds_end": null,
"cds_length": 7371,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.170G>T",
"hgvs_p": "p.Arg57Ile",
"transcript": "XM_047418477.1",
"protein_id": "XP_047274433.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 2447,
"cds_start": 170,
"cds_end": null,
"cds_length": 7344,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.170G>T",
"hgvs_p": "p.Arg57Ile",
"transcript": "XM_047418478.1",
"protein_id": "XP_047274434.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 2447,
"cds_start": 170,
"cds_end": null,
"cds_length": 7344,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 7968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_047418479.1",
"protein_id": "XP_047274435.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2407,
"cds_start": 492,
"cds_end": null,
"cds_length": 7224,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.170G>T",
"hgvs_p": "p.Arg57Ile",
"transcript": "XM_047418480.1",
"protein_id": "XP_047274436.1",
"transcript_support_level": null,
"aa_start": 57,
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"aa_length": 2398,
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"cdna_start": 555,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_011514426.2",
"protein_id": "XP_011512728.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 2339,
"cds_start": 492,
"cds_end": null,
"cds_length": 7020,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7145,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_047418481.1",
"protein_id": "XP_047274437.1",
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_011514428.2",
"protein_id": "XP_011512730.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1851,
"cds_start": 492,
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"cds_length": 5556,
"cdna_start": 555,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_047418482.1",
"protein_id": "XP_047274438.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1765,
"cds_start": 492,
"cds_end": null,
"cds_length": 5298,
"cdna_start": 555,
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"cdna_length": 5461,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_011514430.2",
"protein_id": "XP_011512732.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp",
"transcript": "XM_047418483.1",
"protein_id": "XP_047274439.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
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"cds_start": 492,
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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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "n.567G>T",
"hgvs_p": null,
"transcript": "ENST00000451399.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2572,
"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": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "n.567G>T",
"hgvs_p": null,
"transcript": "ENST00000515773.5",
"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,
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"cdna_length": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"dbsnp": null,
"frequency_reference_population": 6.8420417e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84204e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2779969573020935,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.1869,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.019,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015089.4",
"gene_symbol": "CUL9",
"hgnc_id": 15982,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.492G>T",
"hgvs_p": "p.Glu164Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}