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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: 4-67701070-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=67701070&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 67701070,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018227.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "NM_018227.6",
"protein_id": "NP_060697.4",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1052,
"cds_start": 50,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322244.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018227.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000322244.10",
"protein_id": "ENSP00000313454.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 1052,
"cds_start": 50,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018227.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322244.10"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000420827.2",
"protein_id": "ENSP00000399234.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 389,
"cds_start": 50,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420827.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000907530.1",
"protein_id": "ENSP00000577589.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1058,
"cds_start": 50,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907530.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000907528.1",
"protein_id": "ENSP00000577587.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1054,
"cds_start": 50,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907528.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000928865.1",
"protein_id": "ENSP00000598924.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1049,
"cds_start": 50,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928865.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000928867.1",
"protein_id": "ENSP00000598926.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1040,
"cds_start": 50,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928867.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000928866.1",
"protein_id": "ENSP00000598925.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1031,
"cds_start": 50,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928866.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000907529.1",
"protein_id": "ENSP00000577588.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1028,
"cds_start": 50,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907529.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000968080.1",
"protein_id": "ENSP00000638139.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1028,
"cds_start": 50,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968080.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000907531.1",
"protein_id": "ENSP00000577590.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 50,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907531.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "ENST00000928864.1",
"protein_id": "ENSP00000598923.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1004,
"cds_start": 50,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928864.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "XM_017008359.3",
"protein_id": "XP_016863848.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1009,
"cds_start": 50,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008359.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Cys17Tyr",
"transcript": "XM_047415893.1",
"protein_id": "XP_047271849.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 777,
"cds_start": 50,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "n.79G>A",
"hgvs_p": null,
"transcript": "ENST00000429659.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000429659.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "n.73G>A",
"hgvs_p": null,
"transcript": "ENST00000506571.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000506571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6-DT",
"gene_hgnc_id": 49083,
"hgvs_c": "n.116C>T",
"hgvs_p": null,
"transcript": "ENST00000793755.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6-DT",
"gene_hgnc_id": 49083,
"hgvs_c": "n.-210C>T",
"hgvs_p": null,
"transcript": "ENST00000498917.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498917.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6-DT",
"gene_hgnc_id": 49083,
"hgvs_c": "n.-209C>T",
"hgvs_p": null,
"transcript": "ENST00000500538.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000500538.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6-DT",
"gene_hgnc_id": 49083,
"hgvs_c": "n.-191C>T",
"hgvs_p": null,
"transcript": "ENST00000654961.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000654961.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6-DT",
"gene_hgnc_id": 49083,
"hgvs_c": "n.-203C>T",
"hgvs_p": null,
"transcript": "ENST00000656992.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6-DT",
"gene_hgnc_id": 49083,
"hgvs_c": "n.-139C>T",
"hgvs_p": null,
"transcript": "ENST00000660649.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000660649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}