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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: 20-36548163-GCC-CCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36548163&ref=GCC&alt=CCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYL9",
"hgnc_id": 15754,
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_006097.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DLGAP4-AS1",
"hgnc_id": 51223,
"hgvs_c": "n.467+23276_467+23278delGGCinsAGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000439595.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"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": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 385,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006097.5",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000279022.7",
"protein_coding": true,
"protein_id": "NP_006088.2",
"strand": true,
"transcript": "NM_006097.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 385,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000279022.7",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006097.5",
"protein_coding": true,
"protein_id": "ENSP00000279022.2",
"strand": true,
"transcript": "ENST00000279022.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 118,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1024,
"cdna_start": null,
"cds_end": null,
"cds_length": 357,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000346786.2",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.185-914_185-912delGCCinsCCT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000217313.2",
"strand": true,
"transcript": "ENST00000346786.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439595.5",
"gene_hgnc_id": 51223,
"gene_symbol": "DLGAP4-AS1",
"hgvs_c": "n.467+23276_467+23278delGGCinsAGG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000439595.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 180,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 406,
"cds_end": null,
"cds_length": 543,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866578.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.340_342delGCCinsCCT",
"hgvs_p": "p.Ala114Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536637.1",
"strand": true,
"transcript": "ENST00000866578.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": 396,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866572.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536631.1",
"strand": true,
"transcript": "ENST00000866572.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1392,
"cdna_start": 617,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866573.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536632.1",
"strand": true,
"transcript": "ENST00000866573.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 526,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866574.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536633.1",
"strand": true,
"transcript": "ENST00000866574.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1260,
"cdna_start": 482,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866575.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536634.1",
"strand": true,
"transcript": "ENST00000866575.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 489,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866577.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536636.1",
"strand": true,
"transcript": "ENST00000866577.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 655,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866579.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536638.1",
"strand": true,
"transcript": "ENST00000866579.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 530,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866580.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536639.1",
"strand": true,
"transcript": "ENST00000866580.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 3672,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866581.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536640.1",
"strand": true,
"transcript": "ENST00000866581.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 370,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866582.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536641.1",
"strand": true,
"transcript": "ENST00000866582.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": 469,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866583.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536642.1",
"strand": true,
"transcript": "ENST00000866583.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "A",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1363,
"cdna_start": 588,
"cds_end": null,
"cds_length": 519,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946382.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.316_318delGCCinsCCT",
"hgvs_p": "p.Ala106Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616441.1",
"strand": true,
"transcript": "ENST00000946382.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 167,
"aa_ref": "A",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1145,
"cdna_start": 370,
"cds_end": null,
"cds_length": 504,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866576.1",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.301_303delGCCinsCCT",
"hgvs_p": "p.Ala101Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536635.1",
"strand": true,
"transcript": "ENST00000866576.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 118,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": null,
"cds_end": null,
"cds_length": 357,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181526.3",
"gene_hgnc_id": 15754,
"gene_symbol": "MYL9",
"hgvs_c": "c.185-914_185-912delGCCinsCCT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_852667.1",
"strand": true,
"transcript": "NM_181526.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000425233.7",
"gene_hgnc_id": 51223,
"gene_symbol": "DLGAP4-AS1",
"hgvs_c": "n.603-20241_603-20239delGGCinsAGG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000425233.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1287,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000793269.1",
"gene_hgnc_id": 51223,
"gene_symbol": "DLGAP4-AS1",
"hgvs_c": "n.576+23276_576+23278delGGCinsAGG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000793269.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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