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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: 1-247444127-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=247444127&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NLRP3",
"hgnc_id": 16400,
"hgvs_c": "c.2825A>C",
"hgvs_p": "p.Lys942Thr",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 1,
"transcript": "NM_004895.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000302155",
"hgnc_id": null,
"hgvs_c": "n.158+3957T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000784698.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124904575",
"hgnc_id": null,
"hgvs_c": "n.144+3957T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007067005.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1361,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16277238726615906,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "K",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4187,
"cdna_start": 3588,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2819,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001243133.2",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2819A>C",
"hgvs_p": "p.Lys940Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336119.8",
"protein_coding": true,
"protein_id": "NP_001230062.1",
"strand": true,
"transcript": "NM_001243133.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "K",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4187,
"cdna_start": 3588,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2819,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000336119.8",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2819A>C",
"hgvs_p": "p.Lys940Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001243133.2",
"protein_coding": true,
"protein_id": "ENSP00000337383.4",
"strand": true,
"transcript": "ENST00000336119.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "K",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 2963,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2819,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000391828.8",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2819A>C",
"hgvs_p": "p.Lys940Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375704.4",
"strand": true,
"transcript": "ENST00000391828.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 977,
"aa_ref": "K",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3995,
"cdna_start": 3396,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000366496.7",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2648A>C",
"hgvs_p": "p.Lys883Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355452.3",
"strand": true,
"transcript": "ENST00000366496.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 977,
"aa_ref": "K",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": 3418,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000391827.3",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2648A>C",
"hgvs_p": "p.Lys883Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375703.3",
"strand": true,
"transcript": "ENST00000391827.3",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 920,
"aa_ref": "K",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 3225,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2477,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000348069.7",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2477A>C",
"hgvs_p": "p.Lys826Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294752.4",
"strand": true,
"transcript": "ENST00000348069.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "K",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4187,
"cdna_start": 3588,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_004895.5",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2825A>C",
"hgvs_p": "p.Lys942Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004886.3",
"strand": true,
"transcript": "NM_004895.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "K",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3545,
"cdna_start": 2946,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2819,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001079821.3",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2819A>C",
"hgvs_p": "p.Lys940Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073289.2",
"strand": true,
"transcript": "NM_001079821.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "K",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2819,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000697350.1",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2819A>C",
"hgvs_p": "p.Lys940Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513275.1",
"strand": true,
"transcript": "ENST00000697350.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "K",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4862,
"cdna_start": 3412,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2819,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898449.1",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2819A>C",
"hgvs_p": "p.Lys940Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568508.1",
"strand": true,
"transcript": "ENST00000898449.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2759,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643234.2",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2759A>C",
"hgvs_p": "p.Lys920Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493674.2",
"strand": true,
"transcript": "ENST00000643234.2",
"transcript_support_level": null
},
{
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"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4016,
"cdna_start": 3417,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001127461.3",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2648A>C",
"hgvs_p": "p.Lys883Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120933.2",
"strand": true,
"transcript": "NM_001127461.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 977,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4016,
"cdna_start": 3417,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001127462.3",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2648A>C",
"hgvs_p": "p.Lys883Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120934.2",
"strand": true,
"transcript": "NM_001127462.3",
"transcript_support_level": null
},
{
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"aa_ref": "K",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3481,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000697408.2",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2648A>C",
"hgvs_p": "p.Lys883Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520480.1",
"strand": true,
"transcript": "ENST00000697408.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 977,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": 3241,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898450.1",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2648A>C",
"hgvs_p": "p.Lys883Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568509.1",
"strand": true,
"transcript": "ENST00000898450.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 920,
"aa_ref": "K",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 3246,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2477,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_183395.3",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2477A>C",
"hgvs_p": "p.Lys826Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_899632.2",
"strand": true,
"transcript": "NM_183395.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "K",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2899,
"cds_end": null,
"cds_length": 2592,
"cds_start": 2306,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959505.1",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2306A>C",
"hgvs_p": "p.Lys769Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629564.1",
"strand": true,
"transcript": "ENST00000959505.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1036,
"aa_ref": "K",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017000181.2",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2825A>C",
"hgvs_p": "p.Lys942Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855670.1",
"strand": true,
"transcript": "XM_017000181.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "K",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3721,
"cdna_start": 3122,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017000182.2",
"gene_hgnc_id": 16400,
"gene_symbol": "NLRP3",
"hgvs_c": "c.2825A>C",
"hgvs_p": "p.Lys942Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855671.1",
"strand": true,
"transcript": "XM_017000182.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "K",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 3244,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
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