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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: 1-183567223-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183567223&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NCF2",
"hgnc_id": 7661,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000433.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SMG7",
"hgnc_id": 16792,
"hgvs_c": "n.233+16033G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000495321.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1966,
"alphamissense_prediction": null,
"alphamissense_score": 0.1115,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " autosomal recessive, chronic, cytochrome b-positive, type 2,Granulomatous disease,NCF2-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010832995176315308,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1581,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000433.4",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367535.8",
"protein_coding": true,
"protein_id": "NP_000424.2",
"strand": false,
"transcript": "NM_000433.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1581,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000367535.8",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000433.4",
"protein_coding": true,
"protein_id": "ENSP00000356505.4",
"strand": false,
"transcript": "ENST00000367535.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1581,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000367536.5",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356506.1",
"strand": false,
"transcript": "ENST00000367536.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 591,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1776,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946295.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616354.1",
"strand": false,
"transcript": "ENST00000946295.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1581,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001127651.3",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121123.1",
"strand": false,
"transcript": "NM_001127651.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1581,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000697330.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513258.1",
"strand": false,
"transcript": "ENST00000697330.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1581,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000946289.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616348.1",
"strand": false,
"transcript": "ENST00000946289.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1581,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946290.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616349.1",
"strand": false,
"transcript": "ENST00000946290.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 525,
"aa_ref": "T",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1578,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000873218.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Thr278Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543277.1",
"strand": false,
"transcript": "ENST00000873218.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 524,
"aa_ref": "T",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1575,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946291.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Thr277Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616350.1",
"strand": false,
"transcript": "ENST00000946291.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1512,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946294.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616353.1",
"strand": false,
"transcript": "ENST00000946294.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 492,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1479,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946292.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616351.1",
"strand": false,
"transcript": "ENST00000946292.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 490,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1473,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001410895.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397824.1",
"strand": false,
"transcript": "NM_001410895.1",
"transcript_support_level": null
},
{
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"aa_length": 490,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1473,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000697351.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513276.1",
"strand": false,
"transcript": "ENST00000697351.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1473,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000873217.1",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543276.1",
"strand": false,
"transcript": "ENST00000873217.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 481,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1446,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001190794.2",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Thr234Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177723.1",
"strand": false,
"transcript": "NM_001190794.2",
"transcript_support_level": null
},
{
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"aa_length": 481,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1446,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000413720.5",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Thr234Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399294.1",
"strand": false,
"transcript": "ENST00000413720.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 445,
"aa_ref": "T",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1338,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001190789.2",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177718.1",
"strand": false,
"transcript": "NM_001190789.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 445,
"aa_ref": "T",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1338,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000418089.5",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407217.1",
"strand": false,
"transcript": "ENST00000418089.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2459,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1581,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011509580.2",
"gene_hgnc_id": 7661,
"gene_symbol": "NCF2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Thr279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507882.1",
"strand": false,
"transcript": "XM_011509580.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
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