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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: 3-46903336-CGC-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46903336&ref=CGC&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PTH1R",
"hgnc_id": 9608,
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"inheritance_mode": "AD,AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_000316.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000316.3",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000449590.6",
"protein_coding": true,
"protein_id": "NP_000307.1",
"strand": true,
"transcript": "NM_000316.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449590.6",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000316.3",
"protein_coding": true,
"protein_id": "ENSP00000402723.1",
"strand": true,
"transcript": "ENST00000449590.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000313049.9",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321999.4",
"strand": true,
"transcript": "ENST00000313049.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000430002.6",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413774.2",
"strand": true,
"transcript": "ENST00000430002.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1501,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877357.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1501_1503delCGCinsTAG",
"hgvs_p": "p.Arg501*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547416.1",
"strand": true,
"transcript": "ENST00000877357.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1501,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877359.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1501_1503delCGCinsTAG",
"hgvs_p": "p.Arg501*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547418.1",
"strand": true,
"transcript": "ENST00000877359.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1501,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958963.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1501_1503delCGCinsTAG",
"hgvs_p": "p.Arg501*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629022.1",
"strand": true,
"transcript": "ENST00000958963.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001184744.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171673.1",
"strand": true,
"transcript": "NM_001184744.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000418619.5",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411424.1",
"strand": true,
"transcript": "ENST00000418619.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 2381,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877354.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547413.1",
"strand": true,
"transcript": "ENST00000877354.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877355.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547414.1",
"strand": true,
"transcript": "ENST00000877355.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877356.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547415.1",
"strand": true,
"transcript": "ENST00000877356.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1462,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877358.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1462_1464delCGCinsTAG",
"hgvs_p": "p.Arg488*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547417.1",
"strand": true,
"transcript": "ENST00000877358.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1459,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958964.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1459_1461delCGCinsTAG",
"hgvs_p": "p.Arg487*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629023.1",
"strand": true,
"transcript": "ENST00000958964.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1459,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958965.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1459_1461delCGCinsTAG",
"hgvs_p": "p.Arg487*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629024.1",
"strand": true,
"transcript": "ENST00000958965.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1459,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958968.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1459_1461delCGCinsTAG",
"hgvs_p": "p.Arg487*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629027.1",
"strand": true,
"transcript": "ENST00000958968.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 590,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1453,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936357.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1453_1455delCGCinsTAG",
"hgvs_p": "p.Arg485*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606416.1",
"strand": true,
"transcript": "ENST00000936357.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 579,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1420,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958970.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1420_1422delCGCinsTAG",
"hgvs_p": "p.Arg474*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629029.1",
"strand": true,
"transcript": "ENST00000958970.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 577,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1414,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877362.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1414_1416delCGCinsTAG",
"hgvs_p": "p.Arg472*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547421.1",
"strand": true,
"transcript": "ENST00000877362.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 577,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1414,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958967.1",
"gene_hgnc_id": 9608,
"gene_symbol": "PTH1R",
"hgvs_c": "c.1414_1416delCGCinsTAG",
"hgvs_p": "p.Arg472*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629026.1",
"strand": true,
"transcript": "ENST00000958967.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1393,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
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