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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: 2-200903515-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200903515&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NIF3L1",
"hgnc_id": 13390,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001136039.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 365955,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0371,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00014081597328186035,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369441.2",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409020.6",
"protein_coding": true,
"protein_id": "NP_001356370.1",
"strand": true,
"transcript": "NM_001369441.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000409020.6",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001369441.2",
"protein_coding": true,
"protein_id": "ENSP00000386394.1",
"strand": true,
"transcript": "ENST00000409020.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 350,
"aa_ref": "T",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1626,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1053,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000359683.8",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Thr297Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352711.4",
"strand": true,
"transcript": "ENST00000359683.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 285,
"aa_ref": "L",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 859,
"cds_end": null,
"cds_length": 858,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409588.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Leu278Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387021.1",
"strand": true,
"transcript": "ENST00000409588.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 387,
"aa_ref": "T",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1164,
"cds_start": 1001,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917604.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Thr334Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587663.1",
"strand": true,
"transcript": "ENST00000917604.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "T",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1158,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917600.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587659.1",
"strand": true,
"transcript": "ENST00000917600.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001136039.2",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129511.1",
"strand": true,
"transcript": "NM_001136039.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 2198,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369442.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356371.1",
"strand": true,
"transcript": "NM_001369442.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369444.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356373.1",
"strand": true,
"transcript": "NM_001369444.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369445.2",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356374.1",
"strand": true,
"transcript": "NM_001369445.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409357.5",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387315.1",
"strand": true,
"transcript": "ENST00000409357.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000651500.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498853.1",
"strand": true,
"transcript": "ENST00000651500.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900050.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570109.1",
"strand": true,
"transcript": "ENST00000900050.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900051.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570110.1",
"strand": true,
"transcript": "ENST00000900051.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": 3542,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900052.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570111.1",
"strand": true,
"transcript": "ENST00000900052.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1648,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900054.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570113.1",
"strand": true,
"transcript": "ENST00000900054.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000900055.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570114.1",
"strand": true,
"transcript": "ENST00000900055.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900056.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570115.1",
"strand": true,
"transcript": "ENST00000900056.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917598.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587657.1",
"strand": true,
"transcript": "ENST00000917598.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917599.1",
"gene_hgnc_id": 13390,
"gene_symbol": "NIF3L1",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Thr324Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587658.1",
"strand": true,
"transcript": "ENST00000917599.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1134,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
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