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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: 11-63729340-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=63729340&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RTN3",
"hgnc_id": 10469,
"hgvs_c": "c.2530+8308T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001265589.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1032,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4917,
"cdna_start": null,
"cds_end": null,
"cds_length": 3099,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001265589.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2530+8308T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377819.10",
"protein_coding": true,
"protein_id": "NP_001252518.1",
"strand": true,
"transcript": "NM_001265589.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1032,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4917,
"cdna_start": null,
"cds_end": null,
"cds_length": 3099,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377819.10",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2530+8308T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001265589.2",
"protein_coding": true,
"protein_id": "ENSP00000367050.5",
"strand": true,
"transcript": "ENST00000377819.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1013,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4886,
"cdna_start": null,
"cds_end": null,
"cds_length": 3042,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000339997.8",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2473+8308T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344106.4",
"strand": true,
"transcript": "ENST00000339997.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 920,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": null,
"cds_end": null,
"cds_length": 2763,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540798.5",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2194+8308T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442733.1",
"strand": true,
"transcript": "ENST00000540798.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 236,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": null,
"cds_end": null,
"cds_length": 711,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537981.5",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-20651T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440874.1",
"strand": true,
"transcript": "ENST00000537981.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 848,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7261,
"cdna_start": null,
"cds_end": null,
"cds_length": 2547,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017017092.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.*3174T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872581.1",
"strand": true,
"transcript": "XM_017017092.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1058,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5024,
"cdna_start": null,
"cds_end": null,
"cds_length": 3177,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961358.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2530+8308T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631417.1",
"strand": true,
"transcript": "ENST00000961358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1039,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4942,
"cdna_start": null,
"cds_end": null,
"cds_length": 3120,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918371.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2473+8308T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588430.1",
"strand": true,
"transcript": "ENST00000918371.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1013,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": null,
"cds_end": null,
"cds_length": 3042,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201428.3",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2473+8308T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958831.1",
"strand": true,
"transcript": "NM_201428.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1004,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": null,
"cds_end": null,
"cds_length": 3015,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961361.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2530+8308T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631420.1",
"strand": true,
"transcript": "ENST00000961361.1",
"transcript_support_level": null
},
{
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"aa_length": 920,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4581,
"cdna_start": null,
"cds_end": null,
"cds_length": 2763,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001265590.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.2194+8308T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252519.1",
"strand": true,
"transcript": "NM_001265590.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 847,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": null,
"cds_end": null,
"cds_length": 2544,
"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000869715.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.1975+8308T>G",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539774.1",
"strand": true,
"transcript": "ENST00000869715.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000869710.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.325+8308T>G",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539769.1",
"strand": true,
"transcript": "ENST00000869710.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": null,
"cds_end": null,
"cds_length": 846,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961359.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.200-17607T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631418.1",
"strand": true,
"transcript": "ENST00000961359.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000918373.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-135T>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588432.1",
"strand": true,
"transcript": "ENST00000918373.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869714.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.241+15271T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539773.1",
"strand": true,
"transcript": "ENST00000869714.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": null,
"cds_end": null,
"cds_length": 771,
"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961360.1",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-18114T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631419.1",
"strand": true,
"transcript": "ENST00000961360.1",
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},
{
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"cdna_end": null,
"cdna_length": 2645,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201429.2",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.200-20651T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_958832.1",
"strand": true,
"transcript": "NM_201429.2",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000356000.7",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.200-20651T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000348279.3",
"strand": true,
"transcript": "ENST00000356000.7",
"transcript_support_level": 2
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 726,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201430.3",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-20651T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958833.1",
"strand": true,
"transcript": "NM_201430.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": null,
"cds_end": null,
"cds_length": 726,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341307.6",
"gene_hgnc_id": 10469,
"gene_symbol": "RTN3",
"hgvs_c": "c.143-20651T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340903.2",
"strand": true,
"transcript": "ENST00000341307.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
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