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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: 3-177047372-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=177047372&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 177047372,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_024665.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "NM_024665.7",
"protein_id": "NP_078941.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000457928.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024665.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000457928.7",
"protein_id": "ENSP00000413251.3",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024665.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457928.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000430069.5",
"protein_id": "ENSP00000405574.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430069.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "NM_001321193.3",
"protein_id": "NP_001308122.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321193.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "NM_001321194.3",
"protein_id": "NP_001308123.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321194.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "NM_001374327.1",
"protein_id": "NP_001361256.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374327.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "NM_001374328.1",
"protein_id": "NP_001361257.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374328.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "NM_001374329.1",
"protein_id": "NP_001361258.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374329.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000352800.10",
"protein_id": "ENSP00000263964.11",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352800.10"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000422066.6",
"protein_id": "ENSP00000398477.2",
"transcript_support_level": 4,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422066.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000422442.6",
"protein_id": "ENSP00000387849.3",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422442.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000673974.1",
"protein_id": "ENSP00000501274.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673974.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000704383.1",
"protein_id": "ENSP00000515885.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704383.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000704384.1",
"protein_id": "ENSP00000515886.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704384.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000704385.1",
"protein_id": "ENSP00000515887.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704385.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000883460.1",
"protein_id": "ENSP00000553519.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883460.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000883461.1",
"protein_id": "ENSP00000553520.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883461.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000883462.1",
"protein_id": "ENSP00000553521.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883462.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000883463.1",
"protein_id": "ENSP00000553522.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883463.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000883464.1",
"protein_id": "ENSP00000553523.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883464.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000883465.1",
"protein_id": "ENSP00000553524.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883465.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gln264Gln",
"transcript": "ENST00000883466.1",
"protein_id": "ENSP00000553525.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 514,
"cds_start": 792,
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{
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],
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"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.834,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_024665.7",
"gene_symbol": "TBL1XR1",
"hgnc_id": 29529,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.792G>A",
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{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NR_174966.1",
"gene_symbol": "TBL1XR1-AS1",
"hgnc_id": 41243,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.518-262C>T",
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}
],
"clinvar_disease": "Pierpont syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided|Pierpont syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}