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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: 17-48051345-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48051345&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NFE2L1",
"hgnc_id": 7781,
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003204.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0663,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17724445462226868,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 772,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4839,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2319,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_003204.3",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000362042.8",
"protein_coding": true,
"protein_id": "NP_003195.1",
"strand": true,
"transcript": "NM_003204.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 772,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4839,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2319,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000362042.8",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003204.3",
"protein_coding": true,
"protein_id": "ENSP00000354855.3",
"strand": true,
"transcript": "ENST00000362042.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 742,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4672,
"cdna_start": 832,
"cds_end": null,
"cds_length": 2229,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000357480.9",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350072.5",
"strand": true,
"transcript": "ENST00000357480.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 742,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 542,
"cds_end": null,
"cds_length": 2229,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000585291.5",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461960.1",
"strand": true,
"transcript": "ENST00000585291.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 772,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4819,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2319,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001439152.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426081.1",
"strand": true,
"transcript": "NM_001439152.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 772,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4786,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2319,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880072.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550131.1",
"strand": true,
"transcript": "ENST00000880072.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 772,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": 897,
"cds_end": null,
"cds_length": 2319,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880073.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550132.1",
"strand": true,
"transcript": "ENST00000880073.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 761,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4806,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2286,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001330261.2",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317190.1",
"strand": true,
"transcript": "NM_001330261.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 761,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4786,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2286,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001439153.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426082.1",
"strand": true,
"transcript": "NM_001439153.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 761,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4729,
"cdna_start": 831,
"cds_end": null,
"cds_length": 2286,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000361665.7",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355190.3",
"strand": true,
"transcript": "ENST00000361665.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 761,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 963,
"cds_end": null,
"cds_length": 2286,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880070.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550129.1",
"strand": true,
"transcript": "ENST00000880070.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 742,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2229,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001330262.2",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317191.1",
"strand": true,
"transcript": "NM_001330262.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 742,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4729,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2229,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001439154.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426083.1",
"strand": true,
"transcript": "NM_001439154.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 742,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 855,
"cds_end": null,
"cds_length": 2229,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880071.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550130.1",
"strand": true,
"transcript": "ENST00000880071.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 742,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 786,
"cds_end": null,
"cds_length": 2229,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000880075.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550134.1",
"strand": true,
"transcript": "ENST00000880075.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 742,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4880,
"cdna_start": 974,
"cds_end": null,
"cds_length": 2229,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000937364.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607423.1",
"strand": true,
"transcript": "ENST00000937364.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 742,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4716,
"cdna_start": 863,
"cds_end": null,
"cds_length": 2229,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000937366.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607425.1",
"strand": true,
"transcript": "ENST00000937366.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 731,
"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2196,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001439155.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426084.1",
"strand": true,
"transcript": "NM_001439155.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 731,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4716,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2196,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001439156.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426085.1",
"strand": true,
"transcript": "NM_001439156.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 731,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4750,
"cdna_start": 877,
"cds_end": null,
"cds_length": 2196,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880074.1",
"gene_hgnc_id": 7781,
"gene_symbol": "NFE2L1",
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Asn76Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550133.1",
"strand": true,
"transcript": "ENST00000880074.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 731,
"aa_ref": "N",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4738,
"cdna_start": 869,
"cds_end": null,
"cds_length": 2196,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000937365.1",
"gene_hgnc_id": 7781,
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]
}