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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: 19-53804078-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53804078&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NLRP12",
"hgnc_id": 22938,
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001277126.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.224,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial cold autoinflammatory syndrome 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5786099433898926,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "A",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 3186,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_144687.4",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"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": "V",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "A",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 3186,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000324134.11",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"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": "V",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "A",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 3189,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000391773.8",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"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": "V",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000345770.9",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"intron_rank": null,
"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": "V",
"aa_end": null,
"aa_length": 892,
"aa_ref": "A",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000391772.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"intron_rank": null,
"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": 4,
"exon_rank_end": null,
"feature": "ENST00000492915.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "n.1617C>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": "V",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "A",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 3189,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001277126.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"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": "V",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "A",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 2688,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001277129.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"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": "V",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "A",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000391775.7",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"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": "V",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "A",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 2598,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956370.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626429.1",
"strand": false,
"transcript": "ENST00000956370.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 948,
"aa_ref": "A",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 2559,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000917906.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"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": "V",
"aa_end": null,
"aa_length": 947,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956369.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"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
},
{
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"aa_length": 891,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 2598,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000917905.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587964.1",
"strand": false,
"transcript": "ENST00000917905.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "A",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011527480.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"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": "V",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "A",
"aa_start": 763,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 2517,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2288,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017027462.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val",
"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": "V",
"aa_end": null,
"aa_length": 970,
"aa_ref": "A",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439674.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295630.1",
"strand": false,
"transcript": "XM_047439674.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 948,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011527482.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Ala821Val",
"intron_rank": null,
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"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": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 2688,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439675.1",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"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": "V",
"aa_end": null,
"aa_length": 923,
"aa_ref": "A",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 2900,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017027463.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2045C>T",
"hgvs_p": "p.Ala682Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882952.1",
"strand": false,
"transcript": "XM_017027463.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 923,
"aa_ref": "A",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017027464.2",
"gene_hgnc_id": 22938,
"gene_symbol": "NLRP12",
"hgvs_c": "c.2045C>T",
"hgvs_p": "p.Ala682Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882953.1",
"strand": false,
"transcript": "XM_017027464.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 923,
"aa_ref": "A",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": 2472,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017027465.2",
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