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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: 11-799435-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=799435&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIDD1",
"hgnc_id": 16491,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_145886.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "RPLP2",
"hgnc_id": 10377,
"hgvs_c": "c.-1494C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000960563.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "PANO1",
"hgnc_id": 51237,
"hgvs_c": "c.*1162C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000678030.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3274,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7810446619987488,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 910,
"aa_ref": "V",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 2733,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2605,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_145886.4",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000347755.10",
"protein_coding": true,
"protein_id": "NP_665893.2",
"strand": false,
"transcript": "NM_145886.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 910,
"aa_ref": "V",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 2733,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2605,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000347755.10",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145886.4",
"protein_coding": true,
"protein_id": "ENSP00000337797.5",
"strand": false,
"transcript": "ENST00000347755.10",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 893,
"aa_ref": "V",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2554,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000411829.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2554G>A",
"hgvs_p": "p.Val852Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416801.2",
"strand": false,
"transcript": "ENST00000411829.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3175,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000525028.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "n.*2305G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436342.1",
"strand": false,
"transcript": "ENST00000525028.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3175,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000525028.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "n.*2305G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436342.1",
"strand": false,
"transcript": "ENST00000525028.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 893,
"aa_ref": "V",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2554,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_145887.4",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2554G>A",
"hgvs_p": "p.Val852Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665894.2",
"strand": false,
"transcript": "NM_145887.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 961,
"aa_ref": "V",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 3307,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2758,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427238.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Val920Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283194.1",
"strand": false,
"transcript": "XM_047427238.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 944,
"aa_ref": "V",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 3256,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2707,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427239.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2707G>A",
"hgvs_p": "p.Val903Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283195.1",
"strand": false,
"transcript": "XM_047427239.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 937,
"aa_ref": "V",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 3235,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2686,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047427240.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2686G>A",
"hgvs_p": "p.Val896Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283196.1",
"strand": false,
"transcript": "XM_047427240.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 934,
"aa_ref": "V",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_005253005.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Val893Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253062.1",
"strand": false,
"transcript": "XM_005253005.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 934,
"aa_ref": "V",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005253006.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Val893Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253063.1",
"strand": false,
"transcript": "XM_005253006.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 920,
"aa_ref": "V",
"aa_start": 879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 3184,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2635,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011520209.4",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Val879Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518511.1",
"strand": false,
"transcript": "XM_011520209.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 910,
"aa_ref": "V",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 3687,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2605,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011520210.4",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518512.1",
"strand": false,
"transcript": "XM_011520210.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 788,
"aa_ref": "V",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 2531,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2239,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011520212.3",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2239G>A",
"hgvs_p": "p.Val747Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518514.1",
"strand": false,
"transcript": "XM_011520212.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 771,
"aa_ref": "V",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047427241.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Val730Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283197.1",
"strand": false,
"transcript": "XM_047427241.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 764,
"aa_ref": "V",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427242.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283198.1",
"strand": false,
"transcript": "XM_047427242.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 747,
"aa_ref": "V",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2116,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427243.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2116G>A",
"hgvs_p": "p.Val706Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283199.1",
"strand": false,
"transcript": "XM_047427243.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 621,
"aa_ref": "V",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1738,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011520213.3",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.1738G>A",
"hgvs_p": "p.Val580Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518515.1",
"strand": false,
"transcript": "XM_011520213.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 621,
"aa_ref": "V",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 2255,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1738,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047427245.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.1738G>A",
"hgvs_p": "p.Val580Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283201.1",
"strand": false,
"transcript": "XM_047427245.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 597,
"aa_ref": "V",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1666,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047427246.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Val556Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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