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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: 21-25724650-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25724650&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP5PF",
"hgnc_id": 847,
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Pro114His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001003701.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2085,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3751026391983032,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 526,
"cdna_start": 376,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001003703.2",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000284971.8",
"protein_coding": true,
"protein_id": "NP_001003703.1",
"strand": false,
"transcript": "NM_001003703.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 526,
"cdna_start": 376,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000284971.8",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001003703.2",
"protein_coding": true,
"protein_id": "ENSP00000284971.3",
"strand": false,
"transcript": "ENST00000284971.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1179,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000400093.3",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382965.3",
"strand": false,
"transcript": "ENST00000400093.3",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 116,
"aa_ref": "P",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 590,
"cdna_start": 440,
"cds_end": null,
"cds_length": 351,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001003701.2",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Pro114His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001003701.1",
"strand": false,
"transcript": "NM_001003701.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 116,
"aa_ref": "P",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 589,
"cdna_start": 419,
"cds_end": null,
"cds_length": 351,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000457143.6",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Pro114His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389649.2",
"strand": false,
"transcript": "ENST00000457143.6",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 813,
"cdna_start": 663,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001003696.2",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001003696.1",
"strand": false,
"transcript": "NM_001003696.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 641,
"cdna_start": 491,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001003697.2",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001003697.1",
"strand": false,
"transcript": "NM_001003697.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 419,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320266.2",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307195.1",
"strand": false,
"transcript": "NM_001320266.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1046,
"cdna_start": 896,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320267.2",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307196.1",
"strand": false,
"transcript": "NM_001320267.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 540,
"cdna_start": 390,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001685.5",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001676.2",
"strand": false,
"transcript": "NM_001685.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 826,
"cdna_start": 656,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000400087.7",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382959.3",
"strand": false,
"transcript": "ENST00000400087.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 647,
"cdna_start": 477,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000400090.7",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382962.3",
"strand": false,
"transcript": "ENST00000400090.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 589,
"cdna_start": 419,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000400094.5",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382966.1",
"strand": false,
"transcript": "ENST00000400094.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 376,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000904406.1",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574465.1",
"strand": false,
"transcript": "ENST00000904406.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": 634,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904407.1",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574466.1",
"strand": false,
"transcript": "ENST00000904407.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 676,
"cdna_start": 529,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904408.1",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574467.1",
"strand": false,
"transcript": "ENST00000904408.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 993,
"cdna_start": 892,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904409.1",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574468.1",
"strand": false,
"transcript": "ENST00000904409.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": 700,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904410.1",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574469.1",
"strand": false,
"transcript": "ENST00000904410.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": 470,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904411.1",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574470.1",
"strand": false,
"transcript": "ENST00000904411.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 639,
"cdna_start": 489,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904412.1",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574471.1",
"strand": false,
"transcript": "ENST00000904412.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 679,
"cdna_start": 531,
"cds_end": null,
"cds_length": 327,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904414.1",
"gene_hgnc_id": 847,
"gene_symbol": "ATP5PF",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574472.1",
"strand": false,
"transcript": "ENST00000904414.1",
"transcript_support_level": null
},
{
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