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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: 4-523849-CGC-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=523849&ref=CGC&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIGG",
"hgnc_id": 25985,
"hgvs_c": "c.2005_2007delCGCinsTCA",
"hgvs_p": "p.Arg669Ser",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001127178.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": 983,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127178.3",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2005_2007delCGCinsTCA",
"hgvs_p": "p.Arg669Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453061.7",
"protein_coding": true,
"protein_id": "NP_001120650.1",
"strand": true,
"transcript": "NM_001127178.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 983,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453061.7",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2005_2007delCGCinsTCA",
"hgvs_p": "p.Arg669Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127178.3",
"protein_coding": true,
"protein_id": "ENSP00000415203.2",
"strand": true,
"transcript": "ENST00000453061.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "R",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1606,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000383028.8",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1606_1608delCGCinsTCA",
"hgvs_p": "p.Arg536Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372494.4",
"strand": true,
"transcript": "ENST00000383028.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017733.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1981_1983delCGCinsTCA",
"hgvs_p": "p.Arg661Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060203.3",
"strand": true,
"transcript": "NM_017733.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000310340.9",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1981_1983delCGCinsTCA",
"hgvs_p": "p.Arg661Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311750.5",
"strand": true,
"transcript": "ENST00000310340.9",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868086.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1795_1797delCGCinsTCA",
"hgvs_p": "p.Arg599Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538145.1",
"strand": true,
"transcript": "ENST00000868086.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 912,
"aa_ref": "R",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 2739,
"cds_start": 1792,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868087.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1792_1794delCGCinsTCA",
"hgvs_p": "p.Arg598Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538146.1",
"strand": true,
"transcript": "ENST00000868087.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1738,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289051.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1738_1740delCGCinsTCA",
"hgvs_p": "p.Arg580Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275980.1",
"strand": true,
"transcript": "NM_001289051.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1738,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345986.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1738_1740delCGCinsTCA",
"hgvs_p": "p.Arg580Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332915.1",
"strand": true,
"transcript": "NM_001345986.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1738,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000504346.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1738_1740delCGCinsTCA",
"hgvs_p": "p.Arg580Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424800.1",
"strand": true,
"transcript": "ENST00000504346.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 886,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345987.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1714_1716delCGCinsTCA",
"hgvs_p": "p.Arg572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332916.1",
"strand": true,
"transcript": "NM_001345987.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "R",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1606,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289052.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1606_1608delCGCinsTCA",
"hgvs_p": "p.Arg536Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275981.1",
"strand": true,
"transcript": "NM_001289052.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 640,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 2225,
"cds_end": null,
"cds_length": 1923,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345988.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.976_978delCGCinsTCA",
"hgvs_p": "p.Arg326Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332917.1",
"strand": true,
"transcript": "NM_001345988.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 2481,
"cds_end": null,
"cds_length": 1854,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345994.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.907_909delCGCinsTCA",
"hgvs_p": "p.Arg303Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332923.1",
"strand": true,
"transcript": "NM_001345994.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 1419,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345990.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.472_474delCGCinsTCA",
"hgvs_p": "p.Arg158Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332919.1",
"strand": true,
"transcript": "NM_001345990.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 1419,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345991.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.472_474delCGCinsTCA",
"hgvs_p": "p.Arg158Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332920.1",
"strand": true,
"transcript": "NM_001345991.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5655,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011513490.4",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2005_2007delCGCinsTCA",
"hgvs_p": "p.Arg669Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511792.1",
"strand": true,
"transcript": "XM_011513490.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 861,
"aa_ref": "R",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 2586,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047415846.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1639_1641delCGCinsTCA",
"hgvs_p": "p.Arg547Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271802.1",
"strand": true,
"transcript": "XM_047415846.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 701,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 2106,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047415847.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2005_2007delCGCinsTCA",
"hgvs_p": "p.Arg669Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271803.1",
"strand": true,
"transcript": "XM_047415847.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047415848.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1714_1716delCGCinsTCA",
"hgvs_p": "p.Arg572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271804.1",
"strand": true,
"transcript": "XM_047415848.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1878,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
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