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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: 3-177026467-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=177026467&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 177026467,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000457928.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "NM_024665.7",
"protein_id": "NP_078941.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "ENST00000457928.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000457928.7",
"protein_id": "ENSP00000413251.3",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "NM_024665.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000430069.5",
"protein_id": "ENSP00000405574.1",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 7948,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "n.1364C>T",
"hgvs_p": null,
"transcript": "ENST00000474363.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 6229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "NM_001321193.3",
"protein_id": "NP_001308122.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "NM_001321194.3",
"protein_id": "NP_001308123.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 8301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "NM_001374327.1",
"protein_id": "NP_001361256.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 8106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "NM_001374328.1",
"protein_id": "NP_001361257.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 7989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "NM_001374329.1",
"protein_id": "NP_001361258.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 7970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000352800.10",
"protein_id": "ENSP00000263964.11",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000422066.6",
"protein_id": "ENSP00000398477.2",
"transcript_support_level": 4,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000422442.6",
"protein_id": "ENSP00000387849.3",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000673974.1",
"protein_id": "ENSP00000501274.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000704383.1",
"protein_id": "ENSP00000515885.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 8082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000704384.1",
"protein_id": "ENSP00000515886.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000704385.1",
"protein_id": "ENSP00000515887.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 514,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ala388Val",
"transcript": "NM_001321195.3",
"protein_id": "NP_001308124.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 427,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ala388Val",
"transcript": "NM_001374330.1",
"protein_id": "NP_001361259.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 427,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ala388Val",
"transcript": "ENST00000431421.6",
"protein_id": "ENSP00000402402.2",
"transcript_support_level": 4,
"aa_start": 388,
"aa_end": null,
"aa_length": 427,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.80C>T",
"hgvs_p": "p.Ala27Val",
"transcript": "ENST00000626758.1",
"protein_id": "ENSP00000486622.1",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 66,
"cds_start": 80,
"cds_end": null,
"cds_length": 201,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Ala488Val",
"transcript": "XM_047448941.1",
"protein_id": "XP_047304897.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 527,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 4646,
"cdna_end": null,
"cdna_length": 10921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Ala485Val",
"transcript": "XM_047448942.1",
"protein_id": "XP_047304898.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 524,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 1,
"criteria": [
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"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Inborn genetic diseases,Pierpont syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "Inborn genetic diseases|Pierpont syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}