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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: 7-100575252-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100575252&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100575252,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002319.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Arg636Gln",
"transcript": "NM_002319.5",
"protein_id": "NP_002310.2",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 683,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310300.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002319.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Arg636Gln",
"transcript": "ENST00000310300.11",
"protein_id": "ENSP00000309689.6",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 683,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002319.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310300.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1919G>A",
"hgvs_p": "p.Arg640Gln",
"transcript": "ENST00000877649.1",
"protein_id": "ENSP00000547708.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 687,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877649.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635Gln",
"transcript": "ENST00000965051.1",
"protein_id": "ENSP00000635110.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 682,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965051.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634Gln",
"transcript": "ENST00000877651.1",
"protein_id": "ENSP00000547710.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877651.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634Gln",
"transcript": "ENST00000913367.1",
"protein_id": "ENSP00000583426.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913367.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1892G>A",
"hgvs_p": "p.Arg631Gln",
"transcript": "ENST00000913368.1",
"protein_id": "ENSP00000583427.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 678,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913368.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"transcript": "ENST00000877645.1",
"protein_id": "ENSP00000547704.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 672,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877645.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1844G>A",
"hgvs_p": "p.Arg615Gln",
"transcript": "ENST00000877644.1",
"protein_id": "ENSP00000547703.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 662,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877644.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1838G>A",
"hgvs_p": "p.Arg613Gln",
"transcript": "ENST00000877643.1",
"protein_id": "ENSP00000547702.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 660,
"cds_start": 1838,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877643.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1832G>A",
"hgvs_p": "p.Arg611Gln",
"transcript": "ENST00000913369.1",
"protein_id": "ENSP00000583428.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 658,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913369.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1829G>A",
"hgvs_p": "p.Arg610Gln",
"transcript": "ENST00000877650.1",
"protein_id": "ENSP00000547709.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 657,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877650.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600Gln",
"transcript": "ENST00000877647.1",
"protein_id": "ENSP00000547706.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 647,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877647.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1790G>A",
"hgvs_p": "p.Arg597Gln",
"transcript": "ENST00000877642.1",
"protein_id": "ENSP00000547701.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 644,
"cds_start": 1790,
"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": "ENST00000877642.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1769G>A",
"hgvs_p": "p.Arg590Gln",
"transcript": "ENST00000877648.1",
"protein_id": "ENSP00000547707.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 637,
"cds_start": 1769,
"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": "ENST00000877648.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Arg574Gln",
"transcript": "ENST00000877641.1",
"protein_id": "ENSP00000547700.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 621,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877641.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1691G>A",
"hgvs_p": "p.Arg564Gln",
"transcript": "ENST00000965052.1",
"protein_id": "ENSP00000635111.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 611,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965052.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "ENST00000877646.1",
"protein_id": "ENSP00000547705.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 608,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877646.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543Gln",
"transcript": "ENST00000965053.1",
"protein_id": "ENSP00000635112.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 590,
"cds_start": 1628,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965053.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1919G>A",
"hgvs_p": "p.Arg640Gln",
"transcript": "XM_047420384.1",
"protein_id": "XP_047276340.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 687,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420384.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1838G>A",
"hgvs_p": "p.Arg613Gln",
"transcript": "XM_047420387.1",
"protein_id": "XP_047276343.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 660,
"cds_start": 1838,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420387.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1790G>A",
"hgvs_p": "p.Arg597Gln",
"transcript": "XM_047420388.1",
"protein_id": "XP_047276344.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 644,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_002319.5",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -4,
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],
"verdict": "Likely_benign",
"transcript": "ENST00000485071.2",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}