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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: 3-41225198-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=41225198&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 41225198,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000349496.11",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "NM_001904.4",
"protein_id": "NP_001895.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": "ENST00000349496.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000349496.11",
"protein_id": "ENSP00000344456.5",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": "NM_001904.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000396183.7",
"protein_id": "ENSP00000379486.3",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000396185.8",
"protein_id": "ENSP00000379488.3",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000645982.1",
"protein_id": "ENSP00000494845.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "n.486C>A",
"hgvs_p": null,
"transcript": "ENST00000715152.1",
"protein_id": "ENSP00000520353.1",
"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": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000645927.2",
"protein_id": "ENSP00000495287.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 789,
"cds_start": 486,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.492C>A",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000645276.1",
"protein_id": "ENSP00000494654.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 783,
"cds_start": 492,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "NM_001098209.2",
"protein_id": "NP_001091679.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "NM_001098210.2",
"protein_id": "NP_001091680.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "NM_001438871.1",
"protein_id": "NP_001425800.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "NM_001438872.1",
"protein_id": "NP_001425801.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "NM_001438873.1",
"protein_id": "NP_001425802.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000405570.6",
"protein_id": "ENSP00000385604.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000431914.6",
"protein_id": "ENSP00000412219.2",
"transcript_support_level": 4,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000433400.6",
"protein_id": "ENSP00000387455.2",
"transcript_support_level": 4,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000441708.2",
"protein_id": "ENSP00000401599.2",
"transcript_support_level": 4,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000450969.6",
"protein_id": "ENSP00000409302.2",
"transcript_support_level": 4,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000642248.1",
"protein_id": "ENSP00000495244.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000642315.1",
"protein_id": "ENSP00000495076.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000642426.1",
"protein_id": "ENSP00000495719.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000642992.1",
"protein_id": "ENSP00000496385.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 781,
"cds_start": 486,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000643031.1",
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"gene_symbol": "CTNNB1",
"gene_hgnc_id": 2514,
"dbsnp": "rs5743392",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24152091145515442,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.318,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.242,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000349496.11",
"gene_symbol": "CTNNB1",
"hgnc_id": 2514,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.486C>A",
"hgvs_p": "p.Asp162Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}