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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: 7-100575995-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100575995&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100575995,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Arg551Gln",
"transcript": "NM_002319.5",
"protein_id": "NP_002310.2",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 683,
"cds_start": 1652,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Arg551Gln",
"transcript": "ENST00000310300.11",
"protein_id": "ENSP00000309689.6",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 683,
"cds_start": 1652,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555Gln",
"transcript": "ENST00000877649.1",
"protein_id": "ENSP00000547708.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 687,
"cds_start": 1664,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1649G>A",
"hgvs_p": "p.Arg550Gln",
"transcript": "ENST00000965051.1",
"protein_id": "ENSP00000635110.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 682,
"cds_start": 1649,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549Gln",
"transcript": "ENST00000877651.1",
"protein_id": "ENSP00000547710.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 681,
"cds_start": 1646,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549Gln",
"transcript": "ENST00000913367.1",
"protein_id": "ENSP00000583426.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 681,
"cds_start": 1646,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546Gln",
"transcript": "ENST00000913368.1",
"protein_id": "ENSP00000583427.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 678,
"cds_start": 1637,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Arg551Gln",
"transcript": "ENST00000877645.1",
"protein_id": "ENSP00000547704.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 672,
"cds_start": 1652,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530Gln",
"transcript": "ENST00000877644.1",
"protein_id": "ENSP00000547703.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 662,
"cds_start": 1589,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528Gln",
"transcript": "ENST00000877643.1",
"protein_id": "ENSP00000547702.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 660,
"cds_start": 1583,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Gln",
"transcript": "ENST00000913369.1",
"protein_id": "ENSP00000583428.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 658,
"cds_start": 1577,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Arg551Gln",
"transcript": "ENST00000877650.1",
"protein_id": "ENSP00000547709.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 657,
"cds_start": 1652,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Arg551Gln",
"transcript": "NM_001289934.2",
"protein_id": "NP_001276863.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 652,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289934.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Arg551Gln",
"transcript": "ENST00000485554.6",
"protein_id": "ENSP00000419674.2",
"transcript_support_level": 3,
"aa_start": 551,
"aa_end": null,
"aa_length": 652,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485554.6"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515Gln",
"transcript": "ENST00000877647.1",
"protein_id": "ENSP00000547706.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 647,
"cds_start": 1544,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Gln",
"transcript": "ENST00000877642.1",
"protein_id": "ENSP00000547701.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 644,
"cds_start": 1535,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"transcript": "ENST00000877641.1",
"protein_id": "ENSP00000547700.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 621,
"cds_start": 1466,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "ENST00000877646.1",
"protein_id": "ENSP00000547705.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 608,
"cds_start": 1427,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Arg458Gln",
"transcript": "ENST00000965053.1",
"protein_id": "ENSP00000635112.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 590,
"cds_start": 1373,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555Gln",
"transcript": "XM_047420378.1",
"protein_id": "XP_047276334.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 727,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420378.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Arg551Gln",
"transcript": "XM_047420379.1",
"protein_id": "XP_047276335.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 723,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420379.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532Gln",
"transcript": "XM_047420380.1",
"protein_id": "XP_047276336.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 704,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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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
}