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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: 1-46934523-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46934523&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP4A11",
"hgnc_id": 2642,
"hgvs_c": "c.827A>C",
"hgvs_p": "p.Lys276Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000778.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1039,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0775303840637207,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 519,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1560,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000778.4",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827A>C",
"hgvs_p": "p.Lys276Thr",
"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": "T",
"aa_end": null,
"aa_length": 519,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1560,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000310638.9",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827A>C",
"hgvs_p": "p.Lys276Thr",
"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": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1368,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371905.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827A>C",
"hgvs_p": "p.Lys276Thr",
"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.609-518A>C",
"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": "T",
"aa_end": null,
"aa_length": 556,
"aa_ref": "K",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1671,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909039.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.938A>C",
"hgvs_p": "p.Lys313Thr",
"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": "T",
"aa_end": null,
"aa_length": 527,
"aa_ref": "K",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1584,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909036.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.851A>C",
"hgvs_p": "p.Lys284Thr",
"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": "T",
"aa_end": null,
"aa_length": 525,
"aa_ref": "K",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1578,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909031.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.845A>C",
"hgvs_p": "p.Lys282Thr",
"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": "T",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1551,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909028.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.818A>C",
"hgvs_p": "p.Lys273Thr",
"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": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "K",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1542,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909041.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.809A>C",
"hgvs_p": "p.Lys270Thr",
"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": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "K",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1530,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909056.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.797A>C",
"hgvs_p": "p.Lys266Thr",
"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": "T",
"aa_end": null,
"aa_length": 504,
"aa_ref": "K",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1515,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909035.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.782A>C",
"hgvs_p": "p.Lys261Thr",
"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": "T",
"aa_end": null,
"aa_length": 502,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1509,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909045.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827A>C",
"hgvs_p": "p.Lys276Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579104.1",
"strand": false,
"transcript": "ENST00000909045.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 498,
"aa_ref": "K",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1497,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909022.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.764A>C",
"hgvs_p": "p.Lys255Thr",
"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": "T",
"aa_end": null,
"aa_length": 497,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1494,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909027.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827A>C",
"hgvs_p": "p.Lys276Thr",
"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": "T",
"aa_end": null,
"aa_length": 493,
"aa_ref": "K",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 788,
"cds_end": null,
"cds_length": 1482,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909058.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.749A>C",
"hgvs_p": "p.Lys250Thr",
"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": "T",
"aa_end": null,
"aa_length": 487,
"aa_ref": "K",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1464,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001319155.2",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.731A>C",
"hgvs_p": "p.Lys244Thr",
"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": "T",
"aa_end": null,
"aa_length": 487,
"aa_ref": "K",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1464,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909023.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.731A>C",
"hgvs_p": "p.Lys244Thr",
"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": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "K",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1455,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909057.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.722A>C",
"hgvs_p": "p.Lys241Thr",
"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": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "K",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1431,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909050.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.764A>C",
"hgvs_p": "p.Lys255Thr",
"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": "T",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1425,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909046.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827A>C",
"hgvs_p": "p.Lys276Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579105.1",
"strand": false,
"transcript": "ENST00000909046.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 470,
"aa_ref": "K",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1413,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909037.1",
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