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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: 1-40541650-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40541650&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF684",
"hgnc_id": 28418,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_152373.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 40,
"alphamissense_prediction": null,
"alphamissense_score": 0.1104,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "1",
"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": 0.03515791893005371,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_152373.4",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372699.8",
"protein_coding": true,
"protein_id": "NP_689586.3",
"strand": true,
"transcript": "NM_152373.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372699.8",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152373.4",
"protein_coding": true,
"protein_id": "ENSP00000361784.3",
"strand": true,
"transcript": "ENST00000372699.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 409,
"aa_ref": "V",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1230,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921959.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Val91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592018.1",
"strand": true,
"transcript": "ENST00000921959.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 394,
"aa_ref": "V",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1185,
"cds_start": 226,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900102.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570161.1",
"strand": true,
"transcript": "ENST00000900102.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000648542.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497154.1",
"strand": true,
"transcript": "ENST00000648542.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900101.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570160.1",
"strand": true,
"transcript": "ENST00000900101.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900103.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570162.1",
"strand": true,
"transcript": "ENST00000900103.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": 1671,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900104.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570163.1",
"strand": true,
"transcript": "ENST00000900104.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 344,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900105.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570164.1",
"strand": true,
"transcript": "ENST00000900105.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 320,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900106.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570165.1",
"strand": true,
"transcript": "ENST00000900106.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 396,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900107.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570166.1",
"strand": true,
"transcript": "ENST00000900107.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900108.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570167.1",
"strand": true,
"transcript": "ENST00000900108.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 378,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900109.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570168.1",
"strand": true,
"transcript": "ENST00000900109.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900110.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570169.1",
"strand": true,
"transcript": "ENST00000900110.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900111.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570170.1",
"strand": true,
"transcript": "ENST00000900111.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900112.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570171.1",
"strand": true,
"transcript": "ENST00000900112.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900113.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570172.1",
"strand": true,
"transcript": "ENST00000900113.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 378,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900114.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570173.1",
"strand": true,
"transcript": "ENST00000900114.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": 360,
"cds_end": null,
"cds_length": 1137,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000944562.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614621.1",
"strand": true,
"transcript": "ENST00000944562.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1119,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921960.1",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592019.1",
"strand": true,
"transcript": "ENST00000921960.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 119,
"aa_ref": "V",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": 327,
"cds_end": null,
"cds_length": 360,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372697.7",
"gene_hgnc_id": 28418,
"gene_symbol": "ZNF684",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361782.3",
"strand": true,
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]
}