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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: 11-126292948-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126292948&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126292948,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_148910.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "NM_001318777.2",
"protein_id": "NP_001305706.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392679.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318777.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000392679.6",
"protein_id": "ENSP00000376446.1",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318777.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392679.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000392678.7",
"protein_id": "ENSP00000376445.3",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 235,
"cds_start": 539,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392678.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000392680.6",
"protein_id": "ENSP00000376447.2",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392680.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "n.539C>T",
"hgvs_p": null,
"transcript": "ENST00000479770.2",
"protein_id": "ENSP00000436967.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000479770.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"transcript": "ENST00000871300.1",
"protein_id": "ENSP00000541359.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 247,
"cds_start": 617,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871300.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "NM_001318776.2",
"protein_id": "NP_001305705.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 235,
"cds_start": 539,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318776.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "NM_148910.3",
"protein_id": "NP_683708.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 235,
"cds_start": 539,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148910.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000700491.1",
"protein_id": "ENSP00000515019.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 235,
"cds_start": 539,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700491.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000700492.1",
"protein_id": "ENSP00000515021.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 235,
"cds_start": 539,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700492.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "NM_001039661.2",
"protein_id": "NP_001034750.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039661.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000700488.1",
"protein_id": "ENSP00000515016.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700488.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000700489.1",
"protein_id": "ENSP00000515017.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700489.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000700490.1",
"protein_id": "ENSP00000515018.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700490.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000871298.1",
"protein_id": "ENSP00000541357.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871298.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000871301.1",
"protein_id": "ENSP00000541360.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871301.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000871302.1",
"protein_id": "ENSP00000541361.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871302.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000937665.1",
"protein_id": "ENSP00000607724.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937665.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000952352.1",
"protein_id": "ENSP00000622411.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952352.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000952353.1",
"protein_id": "ENSP00000622412.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952353.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000952354.1",
"protein_id": "ENSP00000622413.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 539,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952354.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000871303.1",
"protein_id": "ENSP00000541362.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 220,
"cds_start": 539,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871303.1"
},
{
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"computational_score_selected": 0.0016107559204101562,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.751,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "NM_148910.3",
"gene_symbol": "TIRAP",
"hgnc_id": 17192,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000533378.1",
"gene_symbol": "ENSG00000254905",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.466G>A",
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}
],
"clinvar_disease": " 1, protection against, resistance to, susceptibility, susceptibility to,Bacteremia,Invasive pneumococcal disease,Malaria,Mycobacterium tuberculosis,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Invasive pneumococcal disease, protection against|Malaria, resistance to|Mycobacterium tuberculosis, protection against|Bacteremia, susceptibility|not provided|not specified|Malaria, susceptibility to;Mycobacterium tuberculosis, susceptibility to;Bacteremia, susceptibility to, 1",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}