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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: 11-591426-ATT-CTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=591426&ref=ATT&alt=CTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PHRF1",
"hgnc_id": 24351,
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001286581.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"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": "L",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5539,
"cdna_start": 607,
"cds_end": null,
"cds_length": 4950,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286581.2",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264555.10",
"protein_coding": true,
"protein_id": "NP_001273510.1",
"strand": true,
"transcript": "NM_001286581.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5539,
"cdna_start": 607,
"cds_end": null,
"cds_length": 4950,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264555.10",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286581.2",
"protein_coding": true,
"protein_id": "ENSP00000264555.5",
"strand": true,
"transcript": "ENST00000264555.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1648,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5278,
"cdna_start": 607,
"cds_end": null,
"cds_length": 4947,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000416188.3",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410626.2",
"strand": true,
"transcript": "ENST00000416188.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "I",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5224,
"cdna_start": 553,
"cds_end": null,
"cds_length": 4944,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413872.6",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.460_462delATTinsCTA",
"hgvs_p": "p.Ile154Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388589.2",
"strand": true,
"transcript": "ENST00000413872.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1645,
"aa_ref": "I",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 544,
"cds_end": null,
"cds_length": 4938,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533464.5",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.451_453delATTinsCTA",
"hgvs_p": "p.Ile151Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431870.1",
"strand": true,
"transcript": "ENST00000533464.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1664,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5421,
"cdna_start": 606,
"cds_end": null,
"cds_length": 4995,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919859.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589918.1",
"strand": true,
"transcript": "ENST00000919859.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5734,
"cdna_start": 912,
"cds_end": null,
"cds_length": 4950,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941193.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611252.1",
"strand": true,
"transcript": "ENST00000941193.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1648,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5536,
"cdna_start": 607,
"cds_end": null,
"cds_length": 4947,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020901.4",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065952.2",
"strand": true,
"transcript": "NM_020901.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1648,
"aa_ref": "I",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5802,
"cdna_start": 870,
"cds_end": null,
"cds_length": 4947,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858731.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.460_462delATTinsCTA",
"hgvs_p": "p.Ile154Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528790.1",
"strand": true,
"transcript": "ENST00000858731.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1648,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5366,
"cdna_start": 599,
"cds_end": null,
"cds_length": 4947,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858740.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528799.1",
"strand": true,
"transcript": "ENST00000858740.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "I",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5533,
"cdna_start": 604,
"cds_end": null,
"cds_length": 4944,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286582.2",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.460_462delATTinsCTA",
"hgvs_p": "p.Ile154Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273511.1",
"strand": true,
"transcript": "NM_001286582.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5371,
"cdna_start": 607,
"cds_end": null,
"cds_length": 4944,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858737.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528796.1",
"strand": true,
"transcript": "ENST00000858737.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5576,
"cdna_start": 653,
"cds_end": null,
"cds_length": 4944,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919858.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589917.1",
"strand": true,
"transcript": "ENST00000919858.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1646,
"aa_ref": "I",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 600,
"cds_end": null,
"cds_length": 4941,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858733.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.454_456delATTinsCTA",
"hgvs_p": "p.Ile152Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528792.1",
"strand": true,
"transcript": "ENST00000858733.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1646,
"aa_ref": "I",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5368,
"cdna_start": 604,
"cds_end": null,
"cds_length": 4941,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858739.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.460_462delATTinsCTA",
"hgvs_p": "p.Ile154Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528798.1",
"strand": true,
"transcript": "ENST00000858739.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1646,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": 591,
"cds_end": null,
"cds_length": 4941,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858741.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528800.1",
"strand": true,
"transcript": "ENST00000858741.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1646,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5638,
"cdna_start": 877,
"cds_end": null,
"cds_length": 4941,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858745.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.463_465delATTinsCTA",
"hgvs_p": "p.Ile155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528804.1",
"strand": true,
"transcript": "ENST00000858745.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1645,
"aa_ref": "I",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 595,
"cds_end": null,
"cds_length": 4938,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286583.2",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.451_453delATTinsCTA",
"hgvs_p": "p.Ile151Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273512.1",
"strand": true,
"transcript": "NM_001286583.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1645,
"aa_ref": "I",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 898,
"cds_end": null,
"cds_length": 4938,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858730.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.454_456delATTinsCTA",
"hgvs_p": "p.Ile152Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528789.1",
"strand": true,
"transcript": "ENST00000858730.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1645,
"aa_ref": "I",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5344,
"cdna_start": 588,
"cds_end": null,
"cds_length": 4938,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858742.1",
"gene_hgnc_id": 24351,
"gene_symbol": "PHRF1",
"hgvs_c": "c.460_462delATTinsCTA",
"hgvs_p": "p.Ile154Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528801.1",
"strand": true,
"transcript": "ENST00000858742.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1644,
"aa_ref": "I",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5362,
"cdna_start": 598,
"cds_end": null,
"cds_length": 4935,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858738.1",
"gene_hgnc_id": 24351,
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