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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: 1-175989434-AT-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=175989434&ref=AT&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COP1",
"hgnc_id": 17440,
"hgvs_c": "c.1774_1775delATinsTC",
"hgvs_p": "p.Ile592Ser",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_022457.7",
"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": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"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": "S",
"aa_end": null,
"aa_length": 731,
"aa_ref": "I",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022457.7",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1774_1775delATinsTC",
"hgvs_p": "p.Ile592Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367669.8",
"protein_coding": true,
"protein_id": "NP_071902.2",
"strand": false,
"transcript": "NM_022457.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 731,
"aa_ref": "I",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367669.8",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1774_1775delATinsTC",
"hgvs_p": "p.Ile592Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022457.7",
"protein_coding": true,
"protein_id": "ENSP00000356641.3",
"strand": false,
"transcript": "ENST00000367669.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 707,
"aa_ref": "I",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1702,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308769.12",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1702_1703delATinsTC",
"hgvs_p": "p.Ile568Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000310943.8",
"strand": false,
"transcript": "ENST00000308769.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000367667.5",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "n.*950_*951delATinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000356639.1",
"strand": false,
"transcript": "ENST00000367667.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000367667.5",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "n.*950_*951delATinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000356639.1",
"strand": false,
"transcript": "ENST00000367667.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 784,
"aa_ref": "I",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2942,
"cdna_start": 2242,
"cds_end": null,
"cds_length": 2355,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935470.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1933_1934delATinsTC",
"hgvs_p": "p.Ile645Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605529.1",
"strand": false,
"transcript": "ENST00000935470.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 770,
"aa_ref": "I",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2949,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1891,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896361.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1891_1892delATinsTC",
"hgvs_p": "p.Ile631Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566420.1",
"strand": false,
"transcript": "ENST00000896361.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 766,
"aa_ref": "I",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1879,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896366.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1879_1880delATinsTC",
"hgvs_p": "p.Ile627Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566425.1",
"strand": false,
"transcript": "ENST00000896366.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 750,
"aa_ref": "I",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1831,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896371.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1831_1832delATinsTC",
"hgvs_p": "p.Ile611Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566430.1",
"strand": false,
"transcript": "ENST00000896371.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 747,
"aa_ref": "I",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1822,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896378.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1822_1823delATinsTC",
"hgvs_p": "p.Ile608Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566437.1",
"strand": false,
"transcript": "ENST00000896378.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 746,
"aa_ref": "I",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1819,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896368.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1819_1820delATinsTC",
"hgvs_p": "p.Ile607Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566427.1",
"strand": false,
"transcript": "ENST00000896368.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 730,
"aa_ref": "I",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1771,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935466.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1771_1772delATinsTC",
"hgvs_p": "p.Ile591Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605525.1",
"strand": false,
"transcript": "ENST00000935466.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 730,
"aa_ref": "I",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935468.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1774_1775delATinsTC",
"hgvs_p": "p.Ile592Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605527.1",
"strand": false,
"transcript": "ENST00000935468.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 728,
"aa_ref": "I",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942110.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1765_1766delATinsTC",
"hgvs_p": "p.Ile589Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612169.1",
"strand": false,
"transcript": "ENST00000942110.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 727,
"aa_ref": "I",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896357.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1762_1763delATinsTC",
"hgvs_p": "p.Ile588Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566416.1",
"strand": false,
"transcript": "ENST00000896357.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 727,
"aa_ref": "I",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896374.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1762_1763delATinsTC",
"hgvs_p": "p.Ile588Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566433.1",
"strand": false,
"transcript": "ENST00000896374.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 726,
"aa_ref": "I",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896373.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1759_1760delATinsTC",
"hgvs_p": "p.Ile587Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566432.1",
"strand": false,
"transcript": "ENST00000896373.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 716,
"aa_ref": "I",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935471.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1774_1775delATinsTC",
"hgvs_p": "p.Ile592Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605530.1",
"strand": false,
"transcript": "ENST00000935471.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "I",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896367.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1714_1715delATinsTC",
"hgvs_p": "p.Ile572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566426.1",
"strand": false,
"transcript": "ENST00000896367.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 708,
"aa_ref": "I",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896363.1",
"gene_hgnc_id": 17440,
"gene_symbol": "COP1",
"hgvs_c": "c.1705_1706delATinsTC",
"hgvs_p": "p.Ile569Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566422.1",
"strand": false,
"transcript": "ENST00000896363.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 707,
"aa_ref": "I",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 2011,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1702,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001001740.4",
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