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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: 15-72349147-T-TAAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72349147&ref=T&alt=TAAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4_Supporting"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "HEXA",
"hgnc_id": 4878,
"hgvs_c": "c.948_950dupCTT",
"hgvs_p": "p.Phe316dup",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001318825.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000260729",
"hgnc_id": null,
"hgvs_c": "n.413-2825_413-2823dupCTT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000379915.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CELF6-AS1",
"hgnc_id": 58304,
"hgvs_c": "n.1578-1071_1578-1069dupGAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000570175.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"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": "FL",
"aa_end": null,
"aa_length": 529,
"aa_ref": "L",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1590,
"cds_start": 917,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000520.6",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.915_917dupCTT",
"hgvs_p": "p.Phe305dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268097.10",
"protein_coding": true,
"protein_id": "NP_000511.2",
"strand": false,
"transcript": "NM_000520.6",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 529,
"aa_ref": "L",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1590,
"cds_start": 917,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000268097.10",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.915_917dupCTT",
"hgvs_p": "p.Phe305dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000520.6",
"protein_coding": true,
"protein_id": "ENSP00000268097.6",
"strand": false,
"transcript": "ENST00000268097.10",
"transcript_support_level": 1
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1582,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1530,
"cds_start": 917,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000567159.5",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.915_917dupCTT",
"hgvs_p": "p.Phe305dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456489.1",
"strand": false,
"transcript": "ENST00000567159.5",
"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": 4374,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379915.4",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000260729",
"hgvs_c": "n.413-2825_413-2823dupCTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478716.1",
"strand": false,
"transcript": "ENST00000379915.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000570175.1",
"gene_hgnc_id": 58304,
"gene_symbol": "CELF6-AS1",
"hgvs_c": "n.1578-1071_1578-1069dupGAA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000570175.1",
"transcript_support_level": 1
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 546,
"aa_ref": "L",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1641,
"cds_start": 968,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861848.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.966_968dupCTT",
"hgvs_p": "p.Phe322dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531907.1",
"strand": false,
"transcript": "ENST00000861848.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 540,
"aa_ref": "L",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4818,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1623,
"cds_start": 950,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001318825.2",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.948_950dupCTT",
"hgvs_p": "p.Phe316dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305754.1",
"strand": false,
"transcript": "NM_001318825.2",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 540,
"aa_ref": "L",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1623,
"cds_start": 950,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000566304.5",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.948_950dupCTT",
"hgvs_p": "p.Phe316dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455114.1",
"strand": false,
"transcript": "ENST00000566304.5",
"transcript_support_level": 2
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1608,
"cds_start": 935,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966316.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.933_935dupCTT",
"hgvs_p": "p.Phe311dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636375.1",
"strand": false,
"transcript": "ENST00000966316.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 527,
"aa_ref": "L",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1584,
"cds_start": 917,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861842.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.915_917dupCTT",
"hgvs_p": "p.Phe305dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531901.1",
"strand": false,
"transcript": "ENST00000861842.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 516,
"aa_ref": "L",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1551,
"cds_start": 878,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861845.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.876_878dupCTT",
"hgvs_p": "p.Phe292dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531904.1",
"strand": false,
"transcript": "ENST00000861845.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 514,
"aa_ref": "L",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1545,
"cds_start": 872,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966317.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.870_872dupCTT",
"hgvs_p": "p.Phe290dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636376.1",
"strand": false,
"transcript": "ENST00000966317.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 500,
"aa_ref": "L",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1503,
"cds_start": 917,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966315.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.915_917dupCTT",
"hgvs_p": "p.Phe305dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636374.1",
"strand": false,
"transcript": "ENST00000966315.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 498,
"aa_ref": "L",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1497,
"cds_start": 824,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861843.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.822_824dupCTT",
"hgvs_p": "p.Phe274dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531902.1",
"strand": false,
"transcript": "ENST00000861843.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 495,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1488,
"cds_start": 815,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861846.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.813_815dupCTT",
"hgvs_p": "p.Phe271dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531905.1",
"strand": false,
"transcript": "ENST00000861846.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 492,
"aa_ref": "L",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1479,
"cds_start": 806,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966314.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.804_806dupCTT",
"hgvs_p": "p.Phe268dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636373.1",
"strand": false,
"transcript": "ENST00000966314.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 476,
"aa_ref": "L",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1431,
"cds_start": 758,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861840.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.756_758dupCTT",
"hgvs_p": "p.Phe252dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531899.1",
"strand": false,
"transcript": "ENST00000861840.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1425,
"cds_start": 917,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000684520.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.915_917dupCTT",
"hgvs_p": "p.Phe305dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506826.1",
"strand": false,
"transcript": "ENST00000684520.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 409,
"aa_ref": "L",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 569,
"cds_end": null,
"cds_length": 1230,
"cds_start": 557,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966318.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.555_557dupCTT",
"hgvs_p": "p.Phe185dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636377.1",
"strand": false,
"transcript": "ENST00000966318.1",
"transcript_support_level": null
},
{
"aa_alt": "FL",
"aa_end": null,
"aa_length": 398,
"aa_ref": "L",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 550,
"cds_end": null,
"cds_length": 1197,
"cds_start": 524,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861841.1",
"gene_hgnc_id": 4878,
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