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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: 11-67284302-CC-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67284302&ref=CC&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRK2",
"hgnc_id": 289,
"hgvs_c": "c.1583_1584delCCinsTA",
"hgvs_p": "p.Thr528Ile",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001619.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"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": "I",
"aa_end": null,
"aa_length": 689,
"aa_ref": "T",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3403,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001619.5",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1583_1584delCCinsTA",
"hgvs_p": "p.Thr528Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308595.10",
"protein_coding": true,
"protein_id": "NP_001610.2",
"strand": true,
"transcript": "NM_001619.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 689,
"aa_ref": "T",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3403,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308595.10",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1583_1584delCCinsTA",
"hgvs_p": "p.Thr528Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001619.5",
"protein_coding": true,
"protein_id": "ENSP00000312262.5",
"strand": true,
"transcript": "ENST00000308595.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 698,
"aa_ref": "T",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3513,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1610,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936739.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1610_1611delCCinsTA",
"hgvs_p": "p.Thr537Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606798.1",
"strand": true,
"transcript": "ENST00000936739.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 696,
"aa_ref": "T",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951317.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1583_1584delCCinsTA",
"hgvs_p": "p.Thr528Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621376.1",
"strand": true,
"transcript": "ENST00000951317.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 688,
"aa_ref": "T",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900273.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1583_1584delCCinsTA",
"hgvs_p": "p.Thr528Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570332.1",
"strand": true,
"transcript": "ENST00000900273.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936744.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1577_1578delCCinsTA",
"hgvs_p": "p.Thr526Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606803.1",
"strand": true,
"transcript": "ENST00000936744.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936745.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1577_1578delCCinsTA",
"hgvs_p": "p.Thr526Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606804.1",
"strand": true,
"transcript": "ENST00000936745.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951319.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1577_1578delCCinsTA",
"hgvs_p": "p.Thr526Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621378.1",
"strand": true,
"transcript": "ENST00000951319.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936746.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1574_1575delCCinsTA",
"hgvs_p": "p.Thr525Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606805.1",
"strand": true,
"transcript": "ENST00000936746.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 685,
"aa_ref": "T",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951321.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1571_1572delCCinsTA",
"hgvs_p": "p.Thr524Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621380.1",
"strand": true,
"transcript": "ENST00000951321.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951316.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1544_1545delCCinsTA",
"hgvs_p": "p.Thr515Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621375.1",
"strand": true,
"transcript": "ENST00000951316.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 674,
"aa_ref": "T",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 1749,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951322.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1538_1539delCCinsTA",
"hgvs_p": "p.Thr513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621381.1",
"strand": true,
"transcript": "ENST00000951322.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 671,
"aa_ref": "T",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1529,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936741.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1529_1530delCCinsTA",
"hgvs_p": "p.Thr510Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606800.1",
"strand": true,
"transcript": "ENST00000936741.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 670,
"aa_ref": "T",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1529,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951320.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1529_1530delCCinsTA",
"hgvs_p": "p.Thr510Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621379.1",
"strand": true,
"transcript": "ENST00000951320.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 668,
"aa_ref": "T",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936743.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1520_1521delCCinsTA",
"hgvs_p": "p.Thr507Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606802.1",
"strand": true,
"transcript": "ENST00000936743.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 667,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936740.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1517_1518delCCinsTA",
"hgvs_p": "p.Thr506Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606799.1",
"strand": true,
"transcript": "ENST00000936740.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": 646,
"cds_end": null,
"cds_length": 861,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951318.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.374_375delCCinsTA",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621377.1",
"strand": true,
"transcript": "ENST00000951318.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "T",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011544773.2",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1493_1494delCCinsTA",
"hgvs_p": "p.Thr498Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543075.1",
"strand": true,
"transcript": "XM_011544773.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 589,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936742.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1491+353_1491+354delCCinsTA",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606801.1",
"strand": true,
"transcript": "ENST00000936742.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 408,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1458,
"cdna_start": null,
"cds_end": null,
"cds_length": 1227,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526285.1",
"gene_hgnc_id": 289,
"gene_symbol": "GRK2",
"hgvs_c": "c.1095+1825_1095+1826delCCinsTA",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434126.1",
"strand": true,
"transcript": "ENST00000526285.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000416281.6",
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