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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: 10-96133669-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96133669&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": "ZNF518A",
"hgnc_id": 29009,
"hgvs_c": "c.-402+21G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014803.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124902486",
"hgnc_id": null,
"hgvs_c": "n.15061C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_007062254.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 135239,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.97,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9700000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8345,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330736.2",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-302+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316045.10",
"protein_coding": true,
"protein_id": "NP_001317665.1",
"strand": true,
"transcript": "NM_001330736.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8345,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316045.10",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-302+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330736.2",
"protein_coding": true,
"protein_id": "ENSP00000479684.1",
"strand": true,
"transcript": "ENST00000316045.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8001,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000624776.4",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-324+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485614.1",
"strand": true,
"transcript": "ENST00000624776.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8340,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278524.2",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-475+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265453.1",
"strand": true,
"transcript": "NM_001278524.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8001,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278525.2",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-324+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265454.1",
"strand": true,
"transcript": "NM_001278525.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7974,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330732.2",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-324+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317661.1",
"strand": true,
"transcript": "NM_001330732.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8542,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330733.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-453+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317662.1",
"strand": true,
"transcript": "NM_001330733.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8243,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330734.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-453+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317663.1",
"strand": true,
"transcript": "NM_001330734.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8391,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330735.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-302+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317664.1",
"strand": true,
"transcript": "NM_001330735.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8418,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330737.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-356+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317666.1",
"strand": true,
"transcript": "NM_001330737.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8511,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330738.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-422+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317667.1",
"strand": true,
"transcript": "NM_001330738.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8294,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014803.4",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-402+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055618.2",
"strand": true,
"transcript": "NM_014803.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614149.2",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-402+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481657.1",
"strand": true,
"transcript": "ENST00000614149.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 1483,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7150,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863556.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-422+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533616.1",
"strand": true,
"transcript": "ENST00000863556.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863558.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-302+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533617.1",
"strand": true,
"transcript": "ENST00000863558.1",
"transcript_support_level": null
},
{
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"aa_length": 1483,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863559.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-302+21G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533618.1",
"strand": true,
"transcript": "ENST00000863559.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000863560.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-453+21G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533619.1",
"strand": true,
"transcript": "ENST00000863560.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863561.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-453+21G>A",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533620.1",
"strand": true,
"transcript": "ENST00000863561.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000937970.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-453+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608029.1",
"strand": true,
"transcript": "ENST00000937970.1",
"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": 8605,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937971.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-453+21G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608030.1",
"strand": true,
"transcript": "ENST00000937971.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8468,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937972.1",
"gene_hgnc_id": 29009,
"gene_symbol": "ZNF518A",
"hgvs_c": "c.-302+21G>A",
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