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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: 11-111495197-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111495197&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111495197,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001367975.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "NM_001367975.1",
"protein_id": "NP_001354904.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 229,
"cds_start": 628,
"cds_end": null,
"cds_length": 690,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": "ENST00000692032.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "ENST00000692032.1",
"protein_id": "ENSP00000509850.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 229,
"cds_start": 628,
"cds_end": null,
"cds_length": 690,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": "NM_001367975.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "NM_001367974.1",
"protein_id": "NP_001354903.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 229,
"cds_start": 628,
"cds_end": null,
"cds_length": 690,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "ENST00000689553.1",
"protein_id": "ENSP00000508793.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 229,
"cds_start": 628,
"cds_end": null,
"cds_length": 690,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "NM_017589.4",
"protein_id": "NP_060059.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 223,
"cds_start": 628,
"cds_end": null,
"cds_length": 672,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "ENST00000356018.6",
"protein_id": "ENSP00000348300.2",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 223,
"cds_start": 628,
"cds_end": null,
"cds_length": 672,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "XM_024448587.2",
"protein_id": "XP_024304355.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 628,
"cds_end": null,
"cds_length": 882,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "XM_024448588.2",
"protein_id": "XP_024304356.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 628,
"cds_end": null,
"cds_length": 882,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "XM_024448589.2",
"protein_id": "XP_024304357.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 628,
"cds_end": null,
"cds_length": 882,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "XM_024448590.2",
"protein_id": "XP_024304358.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 628,
"cds_end": null,
"cds_length": 882,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "XM_024448591.2",
"protein_id": "XP_024304359.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 628,
"cds_end": null,
"cds_length": 882,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "XM_011542876.3",
"protein_id": "XP_011541178.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 273,
"cds_start": 628,
"cds_end": null,
"cds_length": 822,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Lys176Glu",
"transcript": "XM_024448592.2",
"protein_id": "XP_024304360.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 259,
"cds_start": 526,
"cds_end": null,
"cds_length": 780,
"cdna_start": 829,
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"cdna_length": 2401,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "XM_011542879.3",
"protein_id": "XP_011541181.1",
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"cds_start": 628,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "XM_011542880.3",
"protein_id": "XP_011541182.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 226,
"cds_start": 628,
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"cdna_start": 860,
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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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "n.860A>G",
"hgvs_p": null,
"transcript": "XR_001747911.3",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "n.860A>G",
"hgvs_p": null,
"transcript": "XR_007062488.1",
"protein_id": null,
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"aa_length": 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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "n.860A>G",
"hgvs_p": null,
"transcript": "XR_947834.3",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "n.860A>G",
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"transcript": "XR_947835.3",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "BTG4",
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"hgvs_c": "n.860A>G",
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"transcript": "XR_947849.3",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "BTG4",
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"hgvs_c": "n.860A>G",
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"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "n.860A>G",
"hgvs_p": null,
"transcript": "XR_947852.3",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"hgvs_c": "n.860A>G",
"hgvs_p": null,
"transcript": "XR_947855.3",
"protein_id": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BTG4",
"gene_hgnc_id": 13862,
"dbsnp": "rs761118451",
"frequency_reference_population": 0.0000020560337,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205603,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3351849913597107,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.1365,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.911,
"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": 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_001367975.1",
"gene_symbol": "BTG4",
"hgnc_id": 13862,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu"
}
],
"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
}