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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: 4-155803690-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=155803690&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 155803690,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001291951.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1480C>T",
"hgvs_p": "p.Arg494*",
"transcript": "NM_000857.5",
"protein_id": "NP_000848.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 619,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264424.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000857.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1480C>T",
"hgvs_p": "p.Arg494*",
"transcript": "ENST00000264424.13",
"protein_id": "ENSP00000264424.8",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 619,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000857.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264424.13"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469*",
"transcript": "ENST00000507146.5",
"protein_id": "ENSP00000422313.1",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 594,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507146.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Arg461*",
"transcript": "ENST00000503520.5",
"protein_id": "ENSP00000420842.1",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 586,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503520.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426*",
"transcript": "ENST00000505154.5",
"protein_id": "ENSP00000427226.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 551,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505154.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545*",
"transcript": "ENST00000971853.1",
"protein_id": "ENSP00000641912.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 670,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971853.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1576C>T",
"hgvs_p": "p.Arg526*",
"transcript": "ENST00000652626.1",
"protein_id": "ENSP00000498984.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 651,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652626.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519*",
"transcript": "ENST00000971852.1",
"protein_id": "ENSP00000641911.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 644,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971852.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516*",
"transcript": "NM_001291951.3",
"protein_id": "NP_001278880.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 641,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291951.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516*",
"transcript": "ENST00000502959.5",
"protein_id": "ENSP00000426786.1",
"transcript_support_level": 2,
"aa_start": 516,
"aa_end": null,
"aa_length": 641,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502959.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1534C>T",
"hgvs_p": "p.Arg512*",
"transcript": "ENST00000971855.1",
"protein_id": "ENSP00000641914.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 637,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971855.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1507C>T",
"hgvs_p": "p.Arg503*",
"transcript": "ENST00000879916.1",
"protein_id": "ENSP00000549975.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 628,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879916.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1480C>T",
"hgvs_p": "p.Arg494*",
"transcript": "ENST00000879919.1",
"protein_id": "ENSP00000549978.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 615,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879919.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474*",
"transcript": "NM_001291952.3",
"protein_id": "NP_001278881.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 599,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291952.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474*",
"transcript": "ENST00000505764.5",
"protein_id": "ENSP00000426319.1",
"transcript_support_level": 2,
"aa_start": 474,
"aa_end": null,
"aa_length": 599,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505764.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469*",
"transcript": "NM_001291953.3",
"protein_id": "NP_001278882.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 594,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291953.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Arg461*",
"transcript": "NM_001291954.3",
"protein_id": "NP_001278883.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 586,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291954.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1351C>T",
"hgvs_p": "p.Arg451*",
"transcript": "ENST00000936140.1",
"protein_id": "ENSP00000606199.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 576,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936140.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Arg428*",
"transcript": "ENST00000879918.1",
"protein_id": "ENSP00000549977.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 553,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879918.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426*",
"transcript": "NM_001291955.3",
"protein_id": "NP_001278884.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 551,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291955.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426*",
"transcript": "ENST00000513437.1",
"protein_id": "ENSP00000425065.1",
"transcript_support_level": 2,
"aa_start": 426,
"aa_end": null,
"aa_length": 551,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513437.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395*",
"transcript": "ENST00000879920.1",
"protein_id": "ENSP00000549979.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 520,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}