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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: 7-100575261-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100575261&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRCH4",
"hgnc_id": 6691,
"hgvs_c": "c.1898G>C",
"hgvs_p": "p.Arg633Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002319.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000274272",
"hgnc_id": null,
"hgvs_c": "n.1738G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000485071.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.1,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10862812399864197,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 683,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_002319.5",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1898G>C",
"hgvs_p": "p.Arg633Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310300.11",
"protein_coding": true,
"protein_id": "NP_002310.2",
"strand": false,
"transcript": "NM_002319.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 683,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000310300.11",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1898G>C",
"hgvs_p": "p.Arg633Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002319.5",
"protein_coding": true,
"protein_id": "ENSP00000309689.6",
"strand": false,
"transcript": "ENST00000310300.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 1939,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000877649.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1910G>C",
"hgvs_p": "p.Arg637Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547708.1",
"strand": false,
"transcript": "ENST00000877649.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 682,
"aa_ref": "R",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 1922,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000965051.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1895G>C",
"hgvs_p": "p.Arg632Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635110.1",
"strand": false,
"transcript": "ENST00000965051.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000877651.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1892G>C",
"hgvs_p": "p.Arg631Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547710.1",
"strand": false,
"transcript": "ENST00000877651.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000913367.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1892G>C",
"hgvs_p": "p.Arg631Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583426.1",
"strand": false,
"transcript": "ENST00000913367.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000913368.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1883G>C",
"hgvs_p": "p.Arg628Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583427.1",
"strand": false,
"transcript": "ENST00000913368.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 672,
"aa_ref": "R",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000877645.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1865G>C",
"hgvs_p": "p.Arg622Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547704.1",
"strand": false,
"transcript": "ENST00000877645.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1835,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000877644.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1835G>C",
"hgvs_p": "p.Arg612Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547703.1",
"strand": false,
"transcript": "ENST00000877644.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "R",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1829,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000877643.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1829G>C",
"hgvs_p": "p.Arg610Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547702.1",
"strand": false,
"transcript": "ENST00000877643.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 658,
"aa_ref": "R",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1823,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000913369.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1823G>C",
"hgvs_p": "p.Arg608Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583428.1",
"strand": false,
"transcript": "ENST00000913369.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000877650.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1820G>C",
"hgvs_p": "p.Arg607Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547709.1",
"strand": false,
"transcript": "ENST00000877650.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 647,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000877647.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1790G>C",
"hgvs_p": "p.Arg597Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547706.1",
"strand": false,
"transcript": "ENST00000877647.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000877642.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1781G>C",
"hgvs_p": "p.Arg594Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547701.1",
"strand": false,
"transcript": "ENST00000877642.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1760,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000877648.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1760G>C",
"hgvs_p": "p.Arg587Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547707.1",
"strand": false,
"transcript": "ENST00000877648.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000877641.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1712G>C",
"hgvs_p": "p.Arg571Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547700.1",
"strand": false,
"transcript": "ENST00000877641.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 611,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000965052.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1682G>C",
"hgvs_p": "p.Arg561Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635111.1",
"strand": false,
"transcript": "ENST00000965052.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 608,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000877646.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1673G>C",
"hgvs_p": "p.Arg558Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547705.1",
"strand": false,
"transcript": "ENST00000877646.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 590,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1619,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000965053.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1619G>C",
"hgvs_p": "p.Arg540Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635112.1",
"strand": false,
"transcript": "ENST00000965053.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 1939,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047420384.1",
"gene_hgnc_id": 6691,
"gene_symbol": "LRCH4",
"hgvs_c": "c.1910G>C",
"hgvs_p": "p.Arg637Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276340.1",
"strand": false,
"transcript": "XM_047420384.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "R",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1829,
"consequences": [
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