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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: 11-799340-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=799340&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 799340,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_145886.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2700G>A",
"hgvs_p": "p.Ser900Ser",
"transcript": "NM_145886.4",
"protein_id": "NP_665893.2",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 910,
"cds_start": 2700,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347755.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145886.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2700G>A",
"hgvs_p": "p.Ser900Ser",
"transcript": "ENST00000347755.10",
"protein_id": "ENSP00000337797.5",
"transcript_support_level": 1,
"aa_start": 900,
"aa_end": null,
"aa_length": 910,
"cds_start": 2700,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145886.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347755.10"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2649G>A",
"hgvs_p": "p.Ser883Ser",
"transcript": "ENST00000411829.6",
"protein_id": "ENSP00000416801.2",
"transcript_support_level": 1,
"aa_start": 883,
"aa_end": null,
"aa_length": 893,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411829.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "n.*2400G>A",
"hgvs_p": null,
"transcript": "ENST00000525028.6",
"protein_id": "ENSP00000436342.1",
"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": "ENST00000525028.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "n.*2400G>A",
"hgvs_p": null,
"transcript": "ENST00000525028.6",
"protein_id": "ENSP00000436342.1",
"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": "ENST00000525028.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2649G>A",
"hgvs_p": "p.Ser883Ser",
"transcript": "NM_145887.4",
"protein_id": "NP_665894.2",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 893,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145887.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2853G>A",
"hgvs_p": "p.Ser951Ser",
"transcript": "XM_047427238.1",
"protein_id": "XP_047283194.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 961,
"cds_start": 2853,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427238.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2802G>A",
"hgvs_p": "p.Ser934Ser",
"transcript": "XM_047427239.1",
"protein_id": "XP_047283195.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 944,
"cds_start": 2802,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427239.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2781G>A",
"hgvs_p": "p.Ser927Ser",
"transcript": "XM_047427240.1",
"protein_id": "XP_047283196.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 937,
"cds_start": 2781,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427240.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2772G>A",
"hgvs_p": "p.Ser924Ser",
"transcript": "XM_005253005.6",
"protein_id": "XP_005253062.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 934,
"cds_start": 2772,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253005.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2772G>A",
"hgvs_p": "p.Ser924Ser",
"transcript": "XM_005253006.6",
"protein_id": "XP_005253063.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 934,
"cds_start": 2772,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253006.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2730G>A",
"hgvs_p": "p.Ser910Ser",
"transcript": "XM_011520209.4",
"protein_id": "XP_011518511.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 920,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520209.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2700G>A",
"hgvs_p": "p.Ser900Ser",
"transcript": "XM_011520210.4",
"protein_id": "XP_011518512.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 910,
"cds_start": 2700,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520210.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2334G>A",
"hgvs_p": "p.Ser778Ser",
"transcript": "XM_011520212.3",
"protein_id": "XP_011518514.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 788,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520212.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2283G>A",
"hgvs_p": "p.Ser761Ser",
"transcript": "XM_047427241.1",
"protein_id": "XP_047283197.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 771,
"cds_start": 2283,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427241.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2262G>A",
"hgvs_p": "p.Ser754Ser",
"transcript": "XM_047427242.1",
"protein_id": "XP_047283198.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 764,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427242.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.2211G>A",
"hgvs_p": "p.Ser737Ser",
"transcript": "XM_047427243.1",
"protein_id": "XP_047283199.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 747,
"cds_start": 2211,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427243.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Ser611Ser",
"transcript": "XM_011520213.3",
"protein_id": "XP_011518515.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 621,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520213.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Ser611Ser",
"transcript": "XM_047427245.1",
"protein_id": "XP_047283201.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 621,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427245.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "c.1761G>A",
"hgvs_p": "p.Ser587Ser",
"transcript": "XM_047427246.1",
"protein_id": "XP_047283202.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 597,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "n.*2715G>A",
"hgvs_p": null,
"transcript": "ENST00000524486.5",
"protein_id": "ENSP00000436146.1",
"transcript_support_level": 2,
"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": "ENST00000524486.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIDD1",
"gene_hgnc_id": 16491,
"hgvs_c": "n.4341G>A",
"hgvs_p": null,
"transcript": "ENST00000527357.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
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{
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{
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],
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"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.708,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -15,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_145886.4",
"gene_symbol": "PIDD1",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ser900Ser"
},
{
"score": -10,
"benign_score": 10,
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000678030.1",
"gene_symbol": "PANO1",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1067C>T",
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},
{
"score": -10,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000960563.1",
"gene_symbol": "RPLP2",
"hgnc_id": 10377,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "PIDD1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PIDD1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}