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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: 7-100575262-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100575262&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100575262,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002319.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"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.1897C>T",
"hgvs_p": "p.Arg633Trp",
"transcript": "NM_002319.5",
"protein_id": "NP_002310.2",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 683,
"cds_start": 1897,
"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": "W",
"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.1897C>T",
"hgvs_p": "p.Arg633Trp",
"transcript": "ENST00000310300.11",
"protein_id": "ENSP00000309689.6",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 683,
"cds_start": 1897,
"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": "W",
"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.1909C>T",
"hgvs_p": "p.Arg637Trp",
"transcript": "ENST00000877649.1",
"protein_id": "ENSP00000547708.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 687,
"cds_start": 1909,
"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": "W",
"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.1894C>T",
"hgvs_p": "p.Arg632Trp",
"transcript": "ENST00000965051.1",
"protein_id": "ENSP00000635110.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 682,
"cds_start": 1894,
"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": "W",
"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.1891C>T",
"hgvs_p": "p.Arg631Trp",
"transcript": "ENST00000877651.1",
"protein_id": "ENSP00000547710.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 681,
"cds_start": 1891,
"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": "W",
"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.1891C>T",
"hgvs_p": "p.Arg631Trp",
"transcript": "ENST00000913367.1",
"protein_id": "ENSP00000583426.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 681,
"cds_start": 1891,
"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": "W",
"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.1882C>T",
"hgvs_p": "p.Arg628Trp",
"transcript": "ENST00000913368.1",
"protein_id": "ENSP00000583427.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 678,
"cds_start": 1882,
"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": "W",
"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.1864C>T",
"hgvs_p": "p.Arg622Trp",
"transcript": "ENST00000877645.1",
"protein_id": "ENSP00000547704.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 672,
"cds_start": 1864,
"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": "W",
"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.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000877644.1",
"protein_id": "ENSP00000547703.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 662,
"cds_start": 1834,
"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": "W",
"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.1828C>T",
"hgvs_p": "p.Arg610Trp",
"transcript": "ENST00000877643.1",
"protein_id": "ENSP00000547702.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 660,
"cds_start": 1828,
"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": "W",
"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.1822C>T",
"hgvs_p": "p.Arg608Trp",
"transcript": "ENST00000913369.1",
"protein_id": "ENSP00000583428.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 658,
"cds_start": 1822,
"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": "W",
"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.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000877650.1",
"protein_id": "ENSP00000547709.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 657,
"cds_start": 1819,
"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": "W",
"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.1789C>T",
"hgvs_p": "p.Arg597Trp",
"transcript": "ENST00000877647.1",
"protein_id": "ENSP00000547706.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 647,
"cds_start": 1789,
"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": "W",
"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.1780C>T",
"hgvs_p": "p.Arg594Trp",
"transcript": "ENST00000877642.1",
"protein_id": "ENSP00000547701.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 644,
"cds_start": 1780,
"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": "W",
"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.1759C>T",
"hgvs_p": "p.Arg587Trp",
"transcript": "ENST00000877648.1",
"protein_id": "ENSP00000547707.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 637,
"cds_start": 1759,
"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": "W",
"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.1711C>T",
"hgvs_p": "p.Arg571Trp",
"transcript": "ENST00000877641.1",
"protein_id": "ENSP00000547700.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 621,
"cds_start": 1711,
"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": "W",
"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.1681C>T",
"hgvs_p": "p.Arg561Trp",
"transcript": "ENST00000965052.1",
"protein_id": "ENSP00000635111.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 611,
"cds_start": 1681,
"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": "W",
"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.1672C>T",
"hgvs_p": "p.Arg558Trp",
"transcript": "ENST00000877646.1",
"protein_id": "ENSP00000547705.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 608,
"cds_start": 1672,
"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": "W",
"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.1618C>T",
"hgvs_p": "p.Arg540Trp",
"transcript": "ENST00000965053.1",
"protein_id": "ENSP00000635112.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 590,
"cds_start": 1618,
"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": "W",
"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.1909C>T",
"hgvs_p": "p.Arg637Trp",
"transcript": "XM_047420384.1",
"protein_id": "XP_047276340.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 687,
"cds_start": 1909,
"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": "W",
"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.1828C>T",
"hgvs_p": "p.Arg610Trp",
"transcript": "XM_047420387.1",
"protein_id": "XP_047276343.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 660,
"cds_start": 1828,
"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": "W",
"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.1780C>T",
"hgvs_p": "p.Arg594Trp",
"transcript": "XM_047420388.1",
"protein_id": "XP_047276344.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 644,
"cds_start": 1780,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002319.5",
"gene_symbol": "LRCH4",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000485071.2",
"gene_symbol": "ENSG00000274272",
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"effects": [
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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
}