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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: 18-5533189-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=5533189&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EPB41L3",
"hgnc_id": 3380,
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001384685.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 38310,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.98,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9800000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1087,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4459,
"cdna_start": null,
"cds_end": null,
"cds_length": 3264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012307.5",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341928.7",
"protein_coding": true,
"protein_id": "NP_036439.2",
"strand": false,
"transcript": "NM_012307.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1087,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4459,
"cdna_start": null,
"cds_end": null,
"cds_length": 3264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341928.7",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012307.5",
"protein_coding": true,
"protein_id": "ENSP00000343158.2",
"strand": false,
"transcript": "ENST00000341928.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 865,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": null,
"cds_end": null,
"cds_length": 2598,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540638.6",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442091.2",
"strand": false,
"transcript": "ENST00000540638.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1221,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": null,
"cds_end": null,
"cds_length": 3666,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866153.1",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536212.1",
"strand": false,
"transcript": "ENST00000866153.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1143,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4621,
"cdna_start": null,
"cds_end": null,
"cds_length": 3432,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972003.1",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642062.1",
"strand": false,
"transcript": "ENST00000972003.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384685.1",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371614.1",
"strand": false,
"transcript": "NM_001384685.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971991.1",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642050.1",
"strand": false,
"transcript": "ENST00000971991.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972006.1",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+9635C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642065.1",
"strand": false,
"transcript": "ENST00000972006.1",
"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": 4432,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971996.1",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000642055.1",
"strand": false,
"transcript": "ENST00000971996.1",
"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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"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000400111.8",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000382981.5",
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"transcript": "ENST00000400111.8",
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},
{
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],
"exon_count": 23,
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"feature": "ENST00000971999.1",
"gene_hgnc_id": 3380,
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},
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],
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"feature": "ENST00000971990.1",
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},
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},
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"consequences": [
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],
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"feature": "ENST00000971993.1",
"gene_hgnc_id": 3380,
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"protein_coding": true,
"protein_id": "ENSP00000642052.1",
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},
{
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"feature": "ENST00000972005.1",
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"protein_coding": true,
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},
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"consequences": [
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],
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"exon_rank": null,
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"feature": "NM_001330557.2",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001317486.1",
"strand": false,
"transcript": "NM_001330557.2",
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},
{
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000342933.7",
"gene_hgnc_id": 3380,
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},
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},
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],
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"feature": "ENST00000866152.1",
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},
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"consequences": [
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],
"exon_count": 21,
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"feature": "NM_001384686.1",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
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"protein_coding": true,
"protein_id": "NP_001371615.1",
"strand": false,
"transcript": "NM_001384686.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
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"feature": "NM_001384687.1",
"gene_hgnc_id": 3380,
"gene_symbol": "EPB41L3",
"hgvs_c": "c.-12+10724C>T",
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"mane_plus": null,
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"protein_id": "NP_001371616.1",
"strand": false,
"transcript": "NM_001384687.1",
"transcript_support_level": null
},
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