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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: 1-46934522-CT-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46934522&ref=CT&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"stop_gained"
],
"gene_symbol": "CYP4A11",
"hgnc_id": 2642,
"hgvs_c": "c.672_673delAGinsCT",
"hgvs_p": "p.GluGly224*",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001363587.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"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": 871,
"cds_end": null,
"cds_length": 1560,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000778.4",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827_828delAGinsCT",
"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": 871,
"cds_end": null,
"cds_length": 1560,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000310638.9",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827_828delAGinsCT",
"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": 859,
"cds_end": null,
"cds_length": 1368,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371905.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.827_828delAGinsCT",
"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.609-518_609-517delAGinsCT",
"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": "D*",
"aa_end": null,
"aa_length": 459,
"aa_ref": "EG",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1380,
"cds_start": 672,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909049.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.672_673delAGinsCT",
"hgvs_p": "p.GluGly224*",
"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": "D*",
"aa_end": null,
"aa_length": 427,
"aa_ref": "EG",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1284,
"cds_start": 690,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909033.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.690_691delAGinsCT",
"hgvs_p": "p.GluGly230*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579092.1",
"strand": false,
"transcript": "ENST00000909033.1",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 421,
"aa_ref": "EG",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1266,
"cds_start": 672,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363587.2",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.672_673delAGinsCT",
"hgvs_p": "p.GluGly224*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350516.1",
"strand": false,
"transcript": "NM_001363587.2",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 421,
"aa_ref": "EG",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1266,
"cds_start": 672,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462347.5",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.672_673delAGinsCT",
"hgvs_p": "p.GluGly224*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477495.1",
"strand": false,
"transcript": "ENST00000462347.5",
"transcript_support_level": 5
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 418,
"aa_ref": "EG",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1257,
"cds_start": 663,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909030.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.663_664delAGinsCT",
"hgvs_p": "p.GluGly221*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579089.1",
"strand": false,
"transcript": "ENST00000909030.1",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 406,
"aa_ref": "EG",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1221,
"cds_start": 627,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909055.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.627_628delAGinsCT",
"hgvs_p": "p.GluGly209*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579114.1",
"strand": false,
"transcript": "ENST00000909055.1",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "EG",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 569,
"cds_end": null,
"cds_length": 1119,
"cds_start": 525,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909043.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.525_526delAGinsCT",
"hgvs_p": "p.GluGly175*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579102.1",
"strand": false,
"transcript": "ENST00000909043.1",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 365,
"aa_ref": "EG",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1098,
"cds_start": 690,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909053.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.690_691delAGinsCT",
"hgvs_p": "p.GluGly230*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579112.1",
"strand": false,
"transcript": "ENST00000909053.1",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 359,
"aa_ref": "EG",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1080,
"cds_start": 672,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909024.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.672_673delAGinsCT",
"hgvs_p": "p.GluGly224*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579083.1",
"strand": false,
"transcript": "ENST00000909024.1",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 316,
"aa_ref": "EG",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 519,
"cds_end": null,
"cds_length": 951,
"cds_start": 357,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909025.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.357_358delAGinsCT",
"hgvs_p": "p.GluGly119*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579084.1",
"strand": false,
"transcript": "ENST00000909025.1",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 254,
"aa_ref": "EG",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 401,
"cds_end": null,
"cds_length": 765,
"cds_start": 357,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909042.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.357_358delAGinsCT",
"hgvs_p": "p.GluGly119*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579101.1",
"strand": false,
"transcript": "ENST00000909042.1",
"transcript_support_level": null
},
{
"aa_alt": "D*",
"aa_end": null,
"aa_length": 357,
"aa_ref": "EG",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1074,
"cds_start": 672,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005270539.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.672_673delAGinsCT",
"hgvs_p": "p.GluGly224*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270596.1",
"strand": false,
"transcript": "XM_005270539.1",
"transcript_support_level": null
},
{
"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": 982,
"cds_end": null,
"cds_length": 1671,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909039.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.938_939delAGinsCT",
"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": 895,
"cds_end": null,
"cds_length": 1584,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909036.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.851_852delAGinsCT",
"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": 889,
"cds_end": null,
"cds_length": 1578,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909031.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.845_846delAGinsCT",
"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": 882,
"cds_end": null,
"cds_length": 1551,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909028.1",
"gene_hgnc_id": 2642,
"gene_symbol": "CYP4A11",
"hgvs_c": "c.818_819delAGinsCT",
"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": 853,
"cds_end": null,
"cds_length": 1542,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
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