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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: 11-799386-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=799386&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 799386,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145886.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2654G>A",
"hgvs_p": "p.Arg885Gln",
"transcript": "NM_145886.4",
"protein_id": "NP_665893.2",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 910,
"cds_start": 2654,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2654G>A",
"hgvs_p": "p.Arg885Gln",
"transcript": "ENST00000347755.10",
"protein_id": "ENSP00000337797.5",
"transcript_support_level": 1,
"aa_start": 885,
"aa_end": null,
"aa_length": 910,
"cds_start": 2654,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2603G>A",
"hgvs_p": "p.Arg868Gln",
"transcript": "ENST00000411829.6",
"protein_id": "ENSP00000416801.2",
"transcript_support_level": 1,
"aa_start": 868,
"aa_end": null,
"aa_length": 893,
"cds_start": 2603,
"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.*2354G>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.*2354G>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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2603G>A",
"hgvs_p": "p.Arg868Gln",
"transcript": "NM_145887.4",
"protein_id": "NP_665894.2",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 893,
"cds_start": 2603,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2807G>A",
"hgvs_p": "p.Arg936Gln",
"transcript": "XM_047427238.1",
"protein_id": "XP_047283194.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 961,
"cds_start": 2807,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2756G>A",
"hgvs_p": "p.Arg919Gln",
"transcript": "XM_047427239.1",
"protein_id": "XP_047283195.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 944,
"cds_start": 2756,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2735G>A",
"hgvs_p": "p.Arg912Gln",
"transcript": "XM_047427240.1",
"protein_id": "XP_047283196.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 937,
"cds_start": 2735,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "XM_005253005.6",
"protein_id": "XP_005253062.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 934,
"cds_start": 2726,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "XM_005253006.6",
"protein_id": "XP_005253063.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 934,
"cds_start": 2726,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2684G>A",
"hgvs_p": "p.Arg895Gln",
"transcript": "XM_011520209.4",
"protein_id": "XP_011518511.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 920,
"cds_start": 2684,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2654G>A",
"hgvs_p": "p.Arg885Gln",
"transcript": "XM_011520210.4",
"protein_id": "XP_011518512.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 910,
"cds_start": 2654,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2288G>A",
"hgvs_p": "p.Arg763Gln",
"transcript": "XM_011520212.3",
"protein_id": "XP_011518514.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 788,
"cds_start": 2288,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2237G>A",
"hgvs_p": "p.Arg746Gln",
"transcript": "XM_047427241.1",
"protein_id": "XP_047283197.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 771,
"cds_start": 2237,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2216G>A",
"hgvs_p": "p.Arg739Gln",
"transcript": "XM_047427242.1",
"protein_id": "XP_047283198.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 764,
"cds_start": 2216,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2165G>A",
"hgvs_p": "p.Arg722Gln",
"transcript": "XM_047427243.1",
"protein_id": "XP_047283199.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 747,
"cds_start": 2165,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1787G>A",
"hgvs_p": "p.Arg596Gln",
"transcript": "XM_011520213.3",
"protein_id": "XP_011518515.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 621,
"cds_start": 1787,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1787G>A",
"hgvs_p": "p.Arg596Gln",
"transcript": "XM_047427245.1",
"protein_id": "XP_047283201.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 621,
"cds_start": 1787,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1715G>A",
"hgvs_p": "p.Arg572Gln",
"transcript": "XM_047427246.1",
"protein_id": "XP_047283202.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 597,
"cds_start": 1715,
"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.*2669G>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.4295G>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,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BS1",
"BS2"
],
"verdict": "Benign",
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{
"score": -10,
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"BS2"
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"verdict": "Benign",
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{
"score": -10,
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"BS2"
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}