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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: 14-104708748-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104708748&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "INF2",
"hgnc_id": 23791,
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001426862.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 174474,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "14",
"clinvar_classification": "Benign",
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate E,Focal segmental glomerulosclerosis 5,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7623,
"cdna_start": null,
"cds_end": null,
"cds_length": 3750,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022489.4",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392634.9",
"protein_coding": true,
"protein_id": "NP_071934.3",
"strand": true,
"transcript": "NM_022489.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7623,
"cdna_start": null,
"cds_end": null,
"cds_length": 3750,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392634.9",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022489.4",
"protein_coding": true,
"protein_id": "ENSP00000376410.4",
"strand": true,
"transcript": "ENST00000392634.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617571.5",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "n.1949+16A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483829.2",
"strand": true,
"transcript": "ENST00000617571.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1281,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7732,
"cdna_start": null,
"cds_end": null,
"cds_length": 3846,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675207.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.2045+16A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502644.1",
"strand": true,
"transcript": "ENST00000675207.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7650,
"cdna_start": null,
"cds_end": null,
"cds_length": 3807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001426862.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001413791.1",
"strand": true,
"transcript": "NM_001426862.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": null,
"cds_end": null,
"cds_length": 3768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675980.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502520.1",
"strand": true,
"transcript": "ENST00000675980.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1250,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": null,
"cds_end": null,
"cds_length": 3753,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675481.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502723.1",
"strand": true,
"transcript": "ENST00000675481.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7951,
"cdna_start": null,
"cds_end": null,
"cds_length": 3750,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001426863.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001413792.1",
"strand": true,
"transcript": "NM_001426863.1",
"transcript_support_level": null
},
{
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"aa_length": 1249,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7761,
"cdna_start": null,
"cds_end": null,
"cds_length": 3750,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001426864.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001413793.1",
"strand": true,
"transcript": "NM_001426864.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7967,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000896057.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000566116.1",
"strand": true,
"transcript": "ENST00000896057.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000675329.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1925+16A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000502287.1",
"strand": true,
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},
{
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"consequences": [
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],
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"feature": "NM_001031714.4",
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"protein_id": "NP_001026884.3",
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},
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],
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"feature": "NM_001426865.1",
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 22,
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"feature": "ENST00000330634.11",
"gene_hgnc_id": 23791,
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"hgvs_c": "c.1949+16A>G",
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"mane_plus": null,
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"protein_id": "ENSP00000376406.3",
"strand": true,
"transcript": "ENST00000330634.11",
"transcript_support_level": 5
},
{
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],
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"feature": "ENST00000675638.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1949+16A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000501647.1",
"strand": true,
"transcript": "ENST00000675638.1",
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},
{
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000674991.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1199+16A>G",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000502004.1",
"strand": true,
"transcript": "ENST00000674991.1",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000252527.8",
"gene_hgnc_id": 23791,
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"hgvs_c": "n.353+16A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000252527.8",
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"transcript": "ENST00000252527.8",
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},
{
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],
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},
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],
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"feature": "ENST00000674520.1",
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},
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000674662.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "n.1949+16A>G",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000501895.1",
"strand": true,
"transcript": "ENST00000674662.1",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674757.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "n.1949+16A>G",
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"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000502202.1",
"strand": true,
"transcript": "ENST00000674757.1",
"transcript_support_level": null
},
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