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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: 3-177050010-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=177050010&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 177050010,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000457928.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "NM_024665.7",
"protein_id": "NP_078941.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "ENST00000457928.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000457928.7",
"protein_id": "ENSP00000413251.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "NM_024665.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000430069.5",
"protein_id": "ENSP00000405574.1",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 7948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "NM_001321193.3",
"protein_id": "NP_001308122.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "NM_001321194.3",
"protein_id": "NP_001308123.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 8301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "NM_001374327.1",
"protein_id": "NP_001361256.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 8106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "NM_001374328.1",
"protein_id": "NP_001361257.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 7989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "NM_001374329.1",
"protein_id": "NP_001361258.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 7970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000352800.10",
"protein_id": "ENSP00000263964.11",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000422066.6",
"protein_id": "ENSP00000398477.2",
"transcript_support_level": 4,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000422442.6",
"protein_id": "ENSP00000387849.3",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000673974.1",
"protein_id": "ENSP00000501274.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000704383.1",
"protein_id": "ENSP00000515885.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 8082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000704384.1",
"protein_id": "ENSP00000515886.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "ENST00000704385.1",
"protein_id": "ENSP00000515887.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Phe",
"transcript": "NM_001321195.3",
"protein_id": "NP_001308124.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 427,
"cds_start": 428,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Phe",
"transcript": "NM_001374330.1",
"protein_id": "NP_001361259.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 427,
"cds_start": 428,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Phe",
"transcript": "ENST00000431421.6",
"protein_id": "ENSP00000402402.2",
"transcript_support_level": 4,
"aa_start": 143,
"aa_end": null,
"aa_length": 427,
"cds_start": 428,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ser243Phe",
"transcript": "XM_047448941.1",
"protein_id": "XP_047304897.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 527,
"cds_start": 728,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 3911,
"cdna_end": null,
"cdna_length": 10921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ser240Phe",
"transcript": "XM_047448942.1",
"protein_id": "XP_047304898.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 524,
"cds_start": 719,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ser240Phe",
"transcript": "XM_047448943.1",
"protein_id": "XP_047304899.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 524,
"cds_start": 719,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"transcript": "XM_011513142.3",
"protein_id": "XP_011511444.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 514,
"cds_start": 689,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
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"hgvs_c": "c.689C>T",
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{
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{
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}
],
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"dbsnp": "rs1553815393",
"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": 0.897354006767273,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.685,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000457928.7",
"gene_symbol": "TBL1XR1",
"hgnc_id": 29529,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe"
}
],
"clinvar_disease": " autosomal dominant 41,Inborn genetic diseases,Intellectual disability,Pierpont syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "Inborn genetic diseases|Pierpont syndrome;Intellectual disability, autosomal dominant 41|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}