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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: 7-100576260-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100576260&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100576260,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002319.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Asp539Val",
"transcript": "NM_002319.5",
"protein_id": "NP_002310.2",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 683,
"cds_start": 1616,
"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": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Asp539Val",
"transcript": "ENST00000310300.11",
"protein_id": "ENSP00000309689.6",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 683,
"cds_start": 1616,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1628A>T",
"hgvs_p": "p.Asp543Val",
"transcript": "ENST00000877649.1",
"protein_id": "ENSP00000547708.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 687,
"cds_start": 1628,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1613A>T",
"hgvs_p": "p.Asp538Val",
"transcript": "ENST00000965051.1",
"protein_id": "ENSP00000635110.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 682,
"cds_start": 1613,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1610A>T",
"hgvs_p": "p.Asp537Val",
"transcript": "ENST00000877651.1",
"protein_id": "ENSP00000547710.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 681,
"cds_start": 1610,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1610A>T",
"hgvs_p": "p.Asp537Val",
"transcript": "ENST00000913367.1",
"protein_id": "ENSP00000583426.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 681,
"cds_start": 1610,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1601A>T",
"hgvs_p": "p.Asp534Val",
"transcript": "ENST00000913368.1",
"protein_id": "ENSP00000583427.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 678,
"cds_start": 1601,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Asp539Val",
"transcript": "ENST00000877645.1",
"protein_id": "ENSP00000547704.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 672,
"cds_start": 1616,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1553A>T",
"hgvs_p": "p.Asp518Val",
"transcript": "ENST00000877644.1",
"protein_id": "ENSP00000547703.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 662,
"cds_start": 1553,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1547A>T",
"hgvs_p": "p.Asp516Val",
"transcript": "ENST00000877643.1",
"protein_id": "ENSP00000547702.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 660,
"cds_start": 1547,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1541A>T",
"hgvs_p": "p.Asp514Val",
"transcript": "ENST00000913369.1",
"protein_id": "ENSP00000583428.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 658,
"cds_start": 1541,
"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": "D",
"aa_alt": "V",
"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.1616A>T",
"hgvs_p": "p.Asp539Val",
"transcript": "ENST00000877650.1",
"protein_id": "ENSP00000547709.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 657,
"cds_start": 1616,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Asp539Val",
"transcript": "NM_001289934.2",
"protein_id": "NP_001276863.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 652,
"cds_start": 1616,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Asp539Val",
"transcript": "ENST00000485554.6",
"protein_id": "ENSP00000419674.2",
"transcript_support_level": 3,
"aa_start": 539,
"aa_end": null,
"aa_length": 652,
"cds_start": 1616,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1508A>T",
"hgvs_p": "p.Asp503Val",
"transcript": "ENST00000877647.1",
"protein_id": "ENSP00000547706.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 647,
"cds_start": 1508,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1499A>T",
"hgvs_p": "p.Asp500Val",
"transcript": "ENST00000877642.1",
"protein_id": "ENSP00000547701.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 644,
"cds_start": 1499,
"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": "D",
"aa_alt": "V",
"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.1616A>T",
"hgvs_p": "p.Asp539Val",
"transcript": "ENST00000877648.1",
"protein_id": "ENSP00000547707.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 637,
"cds_start": 1616,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1430A>T",
"hgvs_p": "p.Asp477Val",
"transcript": "ENST00000877641.1",
"protein_id": "ENSP00000547700.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 621,
"cds_start": 1430,
"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": "D",
"aa_alt": "V",
"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.1616A>T",
"hgvs_p": "p.Asp539Val",
"transcript": "ENST00000965052.1",
"protein_id": "ENSP00000635111.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 611,
"cds_start": 1616,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1391A>T",
"hgvs_p": "p.Asp464Val",
"transcript": "ENST00000877646.1",
"protein_id": "ENSP00000547705.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 608,
"cds_start": 1391,
"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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH4",
"gene_hgnc_id": 6691,
"hgvs_c": "c.1337A>T",
"hgvs_p": "p.Asp446Val",
"transcript": "ENST00000965053.1",
"protein_id": "ENSP00000635112.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 590,
"cds_start": 1337,
"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": "D",
"aa_alt": "V",
"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.1628A>T",
"hgvs_p": "p.Asp543Val",
"transcript": "XM_047420378.1",
"protein_id": "XP_047276334.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 727,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}