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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: 6-24636042-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24636042&ref=G&alt=A&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": "KIAA0319",
"hgnc_id": 21580,
"hgvs_c": "c.-106+9694C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_014809.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.09,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.090000033378601,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1072,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6838,
"cdna_start": null,
"cds_end": null,
"cds_length": 3219,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014809.4",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9694C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378214.8",
"protein_coding": true,
"protein_id": "NP_055624.2",
"strand": false,
"transcript": "NM_014809.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1072,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6838,
"cdna_start": null,
"cds_end": null,
"cds_length": 3219,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378214.8",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9694C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014809.4",
"protein_coding": true,
"protein_id": "ENSP00000367459.3",
"strand": false,
"transcript": "ENST00000378214.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1011,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6622,
"cdna_start": null,
"cds_end": null,
"cds_length": 3036,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537886.5",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9694C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439700.1",
"strand": false,
"transcript": "ENST00000537886.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1072,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6947,
"cdna_start": null,
"cds_end": null,
"cds_length": 3219,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001168375.2",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9585C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161847.1",
"strand": false,
"transcript": "NM_001168375.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1072,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6539,
"cdna_start": null,
"cds_end": null,
"cds_length": 3219,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350403.2",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9993C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337332.1",
"strand": false,
"transcript": "NM_001350403.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1072,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": null,
"cds_end": null,
"cds_length": 3219,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901508.1",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9993C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571567.1",
"strand": false,
"transcript": "ENST00000901508.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1072,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6856,
"cdna_start": null,
"cds_end": null,
"cds_length": 3219,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937457.1",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9585C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607516.1",
"strand": false,
"transcript": "ENST00000937457.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1066,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6678,
"cdna_start": null,
"cds_end": null,
"cds_length": 3201,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350404.2",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.37+9694C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337333.1",
"strand": false,
"transcript": "NM_001350404.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1063,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6929,
"cdna_start": null,
"cds_end": null,
"cds_length": 3192,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001168374.2",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-224+9694C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161846.1",
"strand": false,
"transcript": "NM_001168374.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1063,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6896,
"cdna_start": null,
"cds_end": null,
"cds_length": 3192,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535378.5",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-224+9694C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442403.1",
"strand": false,
"transcript": "ENST00000535378.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000901509.1",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9694C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571568.1",
"strand": false,
"transcript": "ENST00000901509.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000964874.1",
"gene_hgnc_id": 21580,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634933.1",
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"transcript": "ENST00000964874.1",
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},
{
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],
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"feature": "NM_001350405.2",
"gene_hgnc_id": 21580,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001337334.1",
"strand": false,
"transcript": "NM_001350405.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "NM_001168376.2",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-81+9585C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001161848.1",
"strand": false,
"transcript": "NM_001168376.2",
"transcript_support_level": null
},
{
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],
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"feature": "NM_001350406.2",
"gene_hgnc_id": 21580,
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"protein_coding": true,
"protein_id": "NP_001337335.1",
"strand": false,
"transcript": "NM_001350406.2",
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},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000430948.6",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-81+9585C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000401086.2",
"strand": false,
"transcript": "ENST00000430948.6",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "NM_001168377.2",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-106+9694C>T",
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},
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],
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"feature": "NM_001350407.2",
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},
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],
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"feature": "NM_001350408.2",
"gene_hgnc_id": 21580,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "NM_001350409.2",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-366+9993C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001337338.1",
"strand": false,
"transcript": "NM_001350409.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2763,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350410.2",
"gene_hgnc_id": 21580,
"gene_symbol": "KIAA0319",
"hgvs_c": "c.-366+9694C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001337339.1",
"strand": false,
"transcript": "NM_001350410.2",
"transcript_support_level": null
},
{
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