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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: 7-103103443-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103103443&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "NAPEPLD",
"hgnc_id": 21683,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_198990.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 112,
"alphamissense_prediction": null,
"alphamissense_score": 0.07,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "7",
"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": 0.03130859136581421,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001122838.3",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000465647.6",
"protein_coding": true,
"protein_id": "NP_001116310.1",
"strand": false,
"transcript": "NM_001122838.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000465647.6",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001122838.3",
"protein_coding": true,
"protein_id": "ENSP00000419188.1",
"strand": false,
"transcript": "ENST00000465647.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000341533.8",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340093.4",
"strand": false,
"transcript": "ENST00000341533.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4060,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000414118.2",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "n.393G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000414118.2",
"transcript_support_level": 1
},
{
"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": 2672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000422589.5",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "n.1168G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412376.1",
"strand": false,
"transcript": "ENST00000422589.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4981,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386176.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373105.1",
"strand": false,
"transcript": "NM_001386176.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4895,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386177.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373106.1",
"strand": false,
"transcript": "NM_001386177.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386179.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373108.1",
"strand": false,
"transcript": "NM_001386179.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386182.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373111.1",
"strand": false,
"transcript": "NM_001386182.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5284,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386185.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373114.1",
"strand": false,
"transcript": "NM_001386185.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5238,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386190.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373119.1",
"strand": false,
"transcript": "NM_001386190.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4780,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386191.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373120.1",
"strand": false,
"transcript": "NM_001386191.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4983,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386193.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373122.1",
"strand": false,
"transcript": "NM_001386193.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386194.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373123.1",
"strand": false,
"transcript": "NM_001386194.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4897,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386204.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373133.1",
"strand": false,
"transcript": "NM_001386204.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5252,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386208.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373137.1",
"strand": false,
"transcript": "NM_001386208.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": 1685,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001386209.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373138.1",
"strand": false,
"transcript": "NM_001386209.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5113,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386212.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373141.1",
"strand": false,
"transcript": "NM_001386212.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5130,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386213.1",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373142.1",
"strand": false,
"transcript": "NM_001386213.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4839,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198990.6",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_945341.3",
"strand": false,
"transcript": "NM_198990.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4988,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000417955.5",
"gene_hgnc_id": 21683,
"gene_symbol": "NAPEPLD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"intron_rank": null,
"intron_rank_end": null,
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