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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: 1-46934205-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46934205&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": "CYP4A11",
"hgnc_id": 2642,
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ser353Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_000778.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1651,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3357352316379547,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 519,
"aa_ref": "S",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1059,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000778.4",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ser353Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310638.9",
"protein_coding": true,
"protein_id": "NP_000769.2",
"strand": false,
"transcript": "NM_000778.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 519,
"aa_ref": "S",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1059,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000310638.9",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ser353Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000778.4",
"protein_coding": true,
"protein_id": "ENSP00000311095.4",
"strand": false,
"transcript": "ENST00000310638.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "S",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1059,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000371905.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ser353Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360972.1",
"strand": false,
"transcript": "ENST00000371905.1",
"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": 2108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000465874.5",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "n.609-200C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476368.1",
"strand": false,
"transcript": "ENST00000465874.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 556,
"aa_ref": "S",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1170,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909039.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1170C>A",
"hgvs_p": "p.Ser390Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579098.1",
"strand": false,
"transcript": "ENST00000909039.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1083,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909036.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1083C>A",
"hgvs_p": "p.Ser361Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579095.1",
"strand": false,
"transcript": "ENST00000909036.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 525,
"aa_ref": "S",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1077,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909031.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1077C>A",
"hgvs_p": "p.Ser359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579090.1",
"strand": false,
"transcript": "ENST00000909031.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "S",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1050,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909028.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1050C>A",
"hgvs_p": "p.Ser350Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579087.1",
"strand": false,
"transcript": "ENST00000909028.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 513,
"aa_ref": "S",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1041,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909041.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1041C>A",
"hgvs_p": "p.Ser347Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579100.1",
"strand": false,
"transcript": "ENST00000909041.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "S",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1029,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909056.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1029C>A",
"hgvs_p": "p.Ser343Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579115.1",
"strand": false,
"transcript": "ENST00000909056.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 504,
"aa_ref": "S",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1014,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909035.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.1014C>A",
"hgvs_p": "p.Ser338Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579094.1",
"strand": false,
"transcript": "ENST00000909035.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 498,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1497,
"cds_start": 996,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909022.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.996C>A",
"hgvs_p": "p.Ser332Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579081.1",
"strand": false,
"transcript": "ENST00000909022.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 497,
"aa_ref": "S",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1494,
"cds_start": 993,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909027.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.993C>A",
"hgvs_p": "p.Ser331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579086.1",
"strand": false,
"transcript": "ENST00000909027.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 493,
"aa_ref": "S",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1482,
"cds_start": 981,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909058.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.981C>A",
"hgvs_p": "p.Ser327Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579117.1",
"strand": false,
"transcript": "ENST00000909058.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 487,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1464,
"cds_start": 963,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001319155.2",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.963C>A",
"hgvs_p": "p.Ser321Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306084.1",
"strand": false,
"transcript": "NM_001319155.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 487,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1464,
"cds_start": 963,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909023.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.963C>A",
"hgvs_p": "p.Ser321Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579082.1",
"strand": false,
"transcript": "ENST00000909023.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 484,
"aa_ref": "S",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1455,
"cds_start": 954,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909057.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.954C>A",
"hgvs_p": "p.Ser318Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579116.1",
"strand": false,
"transcript": "ENST00000909057.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 476,
"aa_ref": "S",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1431,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909050.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.930C>A",
"hgvs_p": "p.Ser310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579109.1",
"strand": false,
"transcript": "ENST00000909050.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1413,
"cds_start": 912,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909037.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.912C>A",
"hgvs_p": "p.Ser304Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579096.1",
"strand": false,
"transcript": "ENST00000909037.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 459,
"aa_ref": "S",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1380,
"cds_start": 879,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909049.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.879C>A",
"hgvs_p": "p.Ser293Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579108.1",
"strand": false,
"transcript": "ENST00000909049.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1353,
"cds_start": 852,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909040.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.852C>A",
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