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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: 4-155793980-GC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=155793980&ref=GC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GUCY1B1",
"hgnc_id": 4687,
"hgvs_c": "c.686_687delGCinsCT",
"hgvs_p": "p.Arg229Pro",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001291951.3",
"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": "CT",
"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": "P",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1860,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000857.5",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.620_621delGCinsCT",
"hgvs_p": "p.Arg207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264424.13",
"protein_coding": true,
"protein_id": "NP_000848.1",
"strand": true,
"transcript": "NM_000857.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1860,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264424.13",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.620_621delGCinsCT",
"hgvs_p": "p.Arg207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000857.5",
"protein_coding": true,
"protein_id": "ENSP00000264424.8",
"strand": true,
"transcript": "ENST00000264424.13",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2709,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1785,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507146.5",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.416_417delGCinsCT",
"hgvs_p": "p.Arg139Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422313.1",
"strand": true,
"transcript": "ENST00000507146.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 586,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1761,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503520.5",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.620_621delGCinsCT",
"hgvs_p": "p.Arg207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420842.1",
"strand": true,
"transcript": "ENST00000503520.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 551,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1656,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505154.5",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.416_417delGCinsCT",
"hgvs_p": "p.Arg139Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427226.1",
"strand": true,
"transcript": "ENST00000505154.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 670,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": 875,
"cds_end": null,
"cds_length": 2013,
"cds_start": 773,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971853.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.773_774delGCinsCT",
"hgvs_p": "p.Arg258Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641912.1",
"strand": true,
"transcript": "ENST00000971853.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3466,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1956,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652626.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.716_717delGCinsCT",
"hgvs_p": "p.Arg239Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498984.1",
"strand": true,
"transcript": "ENST00000652626.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1935,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971852.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.695_696delGCinsCT",
"hgvs_p": "p.Arg232Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641911.1",
"strand": true,
"transcript": "ENST00000971852.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1926,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291951.3",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.686_687delGCinsCT",
"hgvs_p": "p.Arg229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278880.1",
"strand": true,
"transcript": "NM_001291951.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1926,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502959.5",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.686_687delGCinsCT",
"hgvs_p": "p.Arg229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426786.1",
"strand": true,
"transcript": "ENST00000502959.5",
"transcript_support_level": 2
},
{
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"aa_length": 637,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1914,
"cds_start": 773,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971855.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.773_774delGCinsCT",
"hgvs_p": "p.Arg258Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641914.1",
"strand": true,
"transcript": "ENST00000971855.1",
"transcript_support_level": null
},
{
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"aa_length": 628,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1887,
"cds_start": 620,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000879916.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.620_621delGCinsCT",
"hgvs_p": "p.Arg207Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549975.1",
"strand": true,
"transcript": "ENST00000879916.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 893,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000971854.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.773_774delGCinsCT",
"hgvs_p": "p.Arg258Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641913.1",
"strand": true,
"transcript": "ENST00000971854.1",
"transcript_support_level": null
},
{
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"aa_length": 615,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1848,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000879919.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.620_621delGCinsCT",
"hgvs_p": "p.Arg207Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549978.1",
"strand": true,
"transcript": "ENST00000879919.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 892,
"cds_end": null,
"cds_length": 1800,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291952.3",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.560_561delGCinsCT",
"hgvs_p": "p.Arg187Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278881.1",
"strand": true,
"transcript": "NM_001291952.3",
"transcript_support_level": null
},
{
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"aa_length": 599,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1800,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505764.5",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.560_561delGCinsCT",
"hgvs_p": "p.Arg187Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426319.1",
"strand": true,
"transcript": "ENST00000505764.5",
"transcript_support_level": 2
},
{
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"aa_length": 594,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 926,
"cds_end": null,
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"cds_start": 416,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "NM_001291953.3",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.416_417delGCinsCT",
"hgvs_p": "p.Arg139Pro",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278882.1",
"strand": true,
"transcript": "NM_001291953.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291954.3",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.620_621delGCinsCT",
"hgvs_p": "p.Arg207Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278883.1",
"strand": true,
"transcript": "NM_001291954.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
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"exon_rank": null,
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"feature": "ENST00000936140.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.620_621delGCinsCT",
"hgvs_p": "p.Arg207Pro",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606199.1",
"strand": true,
"transcript": "ENST00000936140.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1719,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879917.1",
"gene_hgnc_id": 4687,
"gene_symbol": "GUCY1B1",
"hgvs_c": "c.620_621delGCinsCT",
"hgvs_p": "p.Arg207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549976.1",
"strand": true,
"transcript": "ENST00000879917.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 553,
"aa_ref": "R",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1662,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879918.1",
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