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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: 12-57256482-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57256482&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "R3HDM2",
"hgnc_id": 29167,
"hgvs_c": "c.2635C>T",
"hgvs_p": "p.Pro879Ser",
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001351204.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000258830",
"hgnc_id": null,
"hgvs_c": "n.*1529C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000548184.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000295078",
"hgnc_id": null,
"hgvs_c": "n.808+16267G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000727836.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.917,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8941010236740112,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 990,
"aa_ref": "P",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 2908,
"cds_end": null,
"cds_length": 2973,
"cds_start": 2479,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001394031.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2479C>T",
"hgvs_p": "p.Pro827Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402412.6",
"protein_coding": true,
"protein_id": "NP_001380960.1",
"strand": false,
"transcript": "NM_001394031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 990,
"aa_ref": "P",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 2908,
"cds_end": null,
"cds_length": 2973,
"cds_start": 2479,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000402412.6",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2479C>T",
"hgvs_p": "p.Pro827Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394031.1",
"protein_coding": true,
"protein_id": "ENSP00000385839.1",
"strand": false,
"transcript": "ENST00000402412.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 976,
"aa_ref": "P",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2437,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000347140.7",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2437C>T",
"hgvs_p": "p.Pro813Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317903.6",
"strand": false,
"transcript": "ENST00000347140.7",
"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": 3778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000393811.6",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "n.2273C>T",
"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": "ENST00000393811.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000548184.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258830",
"hgvs_c": "n.*1529C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477227.1",
"strand": false,
"transcript": "ENST00000548184.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000548184.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258830",
"hgvs_c": "n.*1529C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477227.1",
"strand": false,
"transcript": "ENST00000548184.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "P",
"aa_start": 879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 3064,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2635,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001351204.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2635C>T",
"hgvs_p": "p.Pro879Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338133.1",
"strand": false,
"transcript": "NM_001351204.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "P",
"aa_start": 879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4461,
"cdna_start": 2958,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2635,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001351205.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2635C>T",
"hgvs_p": "p.Pro879Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338134.1",
"strand": false,
"transcript": "NM_001351205.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "P",
"aa_start": 879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 3059,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2635,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001351206.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2635C>T",
"hgvs_p": "p.Pro879Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338135.1",
"strand": false,
"transcript": "NM_001351206.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "P",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": 3135,
"cds_end": null,
"cds_length": 3099,
"cds_start": 2605,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001351207.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2605C>T",
"hgvs_p": "p.Pro869Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338136.1",
"strand": false,
"transcript": "NM_001351207.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "P",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4589,
"cdna_start": 3086,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001351208.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Pro861Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338137.1",
"strand": false,
"transcript": "NM_001351208.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "P",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4217,
"cdna_start": 2723,
"cds_end": null,
"cds_length": 3069,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000945082.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Pro861Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615141.1",
"strand": false,
"transcript": "ENST00000945082.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "P",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 2968,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2539,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001330121.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2539C>T",
"hgvs_p": "p.Pro847Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317050.1",
"strand": false,
"transcript": "NM_001330121.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "P",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 2963,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2539,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001330122.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2539C>T",
"hgvs_p": "p.Pro847Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317051.1",
"strand": false,
"transcript": "NM_001330122.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "P",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 2836,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2539,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000403821.6",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2539C>T",
"hgvs_p": "p.Pro847Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385169.2",
"strand": false,
"transcript": "ENST00000403821.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "P",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001351209.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2533C>T",
"hgvs_p": "p.Pro845Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338138.1",
"strand": false,
"transcript": "NM_001351209.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "P",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4515,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000878714.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2533C>T",
"hgvs_p": "p.Pro845Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548773.1",
"strand": false,
"transcript": "ENST00000878714.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "P",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2539,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000878715.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2539C>T",
"hgvs_p": "p.Pro847Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548774.1",
"strand": false,
"transcript": "ENST00000878715.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "P",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4197,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000878717.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.2533C>T",
"hgvs_p": "p.Pro845Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548776.1",
"strand": false,
"transcript": "ENST00000878717.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 998,
"aa_ref": "P",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4435,
"cdna_start": 2932,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2503,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001351211.2",
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{
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]
}