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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: 4-186276275-AACATCG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186276275&ref=AACATCG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM4",
"PP5_Very_Strong"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "F11",
"hgnc_id": 3529,
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_000128.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM4,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hereditary factor XI deficiency disease",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000128.4",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403665.7",
"protein_coding": true,
"protein_id": "NP_000119.1",
"strand": true,
"transcript": "NM_000128.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000403665.7",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000128.4",
"protein_coding": true,
"protein_id": "ENSP00000384957.2",
"strand": true,
"transcript": "ENST00000403665.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2064,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886358.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556417.1",
"strand": true,
"transcript": "ENST00000886358.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4679,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886339.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556398.1",
"strand": true,
"transcript": "ENST00000886339.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886343.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556402.1",
"strand": true,
"transcript": "ENST00000886343.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886347.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556406.1",
"strand": true,
"transcript": "ENST00000886347.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886351.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556410.1",
"strand": true,
"transcript": "ENST00000886351.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886352.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556411.1",
"strand": true,
"transcript": "ENST00000886352.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886355.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556414.1",
"strand": true,
"transcript": "ENST00000886355.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1878,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886360.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556419.1",
"strand": true,
"transcript": "ENST00000886360.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 612,
"aa_ref": "IDS",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1839,
"cds_start": 605,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886359.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.605_610delTCGACA",
"hgvs_p": "p.Ile202_Asp203del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556418.1",
"strand": true,
"transcript": "ENST00000886359.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 609,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1830,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440590.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427519.1",
"strand": true,
"transcript": "NM_001440590.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 609,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1830,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886342.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556401.1",
"strand": true,
"transcript": "ENST00000886342.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3986,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1782,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440593.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427522.1",
"strand": true,
"transcript": "NM_001440593.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 577,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1734,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440596.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427525.1",
"strand": true,
"transcript": "NM_001440596.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1605,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886349.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556408.1",
"strand": true,
"transcript": "ENST00000886349.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 209,
"aa_ref": "IDS",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": 91,
"cds_end": null,
"cds_length": 630,
"cds_start": 89,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000452239.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.89_94delTCGACA",
"hgvs_p": "p.Ile30_Asp31del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397401.1",
"strand": true,
"transcript": "ENST00000452239.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1881,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005262821.5",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262878.1",
"strand": true,
"transcript": "XM_005262821.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 610,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1833,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006714137.4",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714200.1",
"strand": true,
"transcript": "XM_006714137.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1785,
"cds_start": 644,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005262822.5",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.644_649delTCGACA",
"hgvs_p": "p.Ile215_Asp216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262879.1",
"strand": true,
"transcript": "XM_005262822.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 395,
"aa_ref": "IDS",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
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