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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: 19-53795919-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53795919&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NLRP12",
"hgnc_id": 22938,
"hgvs_c": "c.3041C>T",
"hgvs_p": "p.Thr1014Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001277126.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1475,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19320893287658691,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "T",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 3178,
"cds_end": null,
"cds_length": 3186,
"cds_start": 3038,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_144687.4",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.3038C>T",
"hgvs_p": "p.Thr1013Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324134.11",
"protein_coding": true,
"protein_id": "NP_653288.1",
"strand": false,
"transcript": "NM_144687.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "T",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 3178,
"cds_end": null,
"cds_length": 3186,
"cds_start": 3038,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000324134.11",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.3038C>T",
"hgvs_p": "p.Thr1013Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144687.4",
"protein_coding": true,
"protein_id": "ENSP00000319377.6",
"strand": false,
"transcript": "ENST00000324134.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "T",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000391773.8",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.3041C>T",
"hgvs_p": "p.Thr1014Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375653.1",
"strand": false,
"transcript": "ENST00000391773.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1006,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": null,
"cds_end": null,
"cds_length": 3021,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000345770.9",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2934-1783C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341428.5",
"strand": false,
"transcript": "ENST00000345770.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 892,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": null,
"cds_end": null,
"cds_length": 2679,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000391772.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2592-1783C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375652.1",
"strand": false,
"transcript": "ENST00000391772.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000492915.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "n.2025C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000492915.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "T",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 3181,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001277126.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.3041C>T",
"hgvs_p": "p.Thr1014Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264055.1",
"strand": false,
"transcript": "NM_001277126.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "T",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2870,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956368.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2870C>T",
"hgvs_p": "p.Thr957Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626427.1",
"strand": false,
"transcript": "ENST00000956368.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "T",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001277129.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Thr956Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264058.1",
"strand": false,
"transcript": "NM_001277129.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "T",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 3010,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000391775.7",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Thr956Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375655.3",
"strand": false,
"transcript": "ENST00000391775.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 948,
"aa_ref": "T",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 2796,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2699,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917906.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2699C>T",
"hgvs_p": "p.Thr900Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587965.1",
"strand": false,
"transcript": "ENST00000917906.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 947,
"aa_ref": "T",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2696,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956367.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2696C>T",
"hgvs_p": "p.Thr899Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626426.1",
"strand": false,
"transcript": "ENST00000956367.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 947,
"aa_ref": "T",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 2713,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2696,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956369.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2696C>T",
"hgvs_p": "p.Thr899Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626428.1",
"strand": false,
"transcript": "ENST00000956369.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "T",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 3099,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2870,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011527479.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2870C>T",
"hgvs_p": "p.Thr957Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525781.1",
"strand": false,
"transcript": "XM_011527479.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "T",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 3099,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2870,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011527480.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2870C>T",
"hgvs_p": "p.Thr957Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525782.1",
"strand": false,
"transcript": "XM_011527480.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "T",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017027462.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Thr956Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882951.1",
"strand": false,
"transcript": "XM_017027462.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "T",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047439673.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Thr956Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295629.1",
"strand": false,
"transcript": "XM_047439673.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 948,
"aa_ref": "T",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 2928,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2699,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011527482.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2699C>T",
"hgvs_p": "p.Thr900Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525784.1",
"strand": false,
"transcript": "XM_011527482.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 947,
"aa_ref": "T",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 2925,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2696,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047439675.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2696C>T",
"hgvs_p": "p.Thr899Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295631.1",
"strand": false,
"transcript": "XM_047439675.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 947,
"aa_ref": "T",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 2925,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2696,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047439676.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2696C>T",
"hgvs_p": "p.Thr899Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295632.1",
"strand": false,
"transcript": "XM_047439676.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 923,
"aa_ref": "T",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 3479,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
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