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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: 1-20810884-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20810884&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20810884,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001391907.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4598C>G",
"hgvs_p": "p.Ala1533Gly",
"transcript": "NM_001391906.1",
"protein_id": "NP_001378835.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1641,
"cds_start": 4598,
"cds_end": null,
"cds_length": 4926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000602326.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391906.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4598C>G",
"hgvs_p": "p.Ala1533Gly",
"transcript": "ENST00000602326.6",
"protein_id": "ENSP00000473510.2",
"transcript_support_level": 1,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1641,
"cds_start": 4598,
"cds_end": null,
"cds_length": 4926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001391906.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602326.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4538C>G",
"hgvs_p": "p.Ala1513Gly",
"transcript": "ENST00000400422.6",
"protein_id": "ENSP00000383274.2",
"transcript_support_level": 1,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4538,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400422.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Ala1787Gly",
"transcript": "ENST00000693470.1",
"protein_id": "ENSP00000509295.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 1895,
"cds_start": 5360,
"cds_end": null,
"cds_length": 5688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693470.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4997C>G",
"hgvs_p": "p.Ala1666Gly",
"transcript": "ENST00000634879.2",
"protein_id": "ENSP00000489051.2",
"transcript_support_level": 5,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1774,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634879.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4916C>G",
"hgvs_p": "p.Ala1639Gly",
"transcript": "ENST00000685872.1",
"protein_id": "ENSP00000509442.1",
"transcript_support_level": null,
"aa_start": 1639,
"aa_end": null,
"aa_length": 1747,
"cds_start": 4916,
"cds_end": null,
"cds_length": 5244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685872.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4688C>G",
"hgvs_p": "p.Ala1563Gly",
"transcript": "NM_001391907.1",
"protein_id": "NP_001378836.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1671,
"cds_start": 4688,
"cds_end": null,
"cds_length": 5016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391907.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4595C>G",
"hgvs_p": "p.Ala1532Gly",
"transcript": "ENST00000684485.1",
"protein_id": "ENSP00000507662.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4595,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684485.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4577C>G",
"hgvs_p": "p.Ala1526Gly",
"transcript": "NM_001438678.1",
"protein_id": "NP_001425607.1",
"transcript_support_level": null,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4577,
"cds_end": null,
"cds_length": 4905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438678.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4577C>G",
"hgvs_p": "p.Ala1526Gly",
"transcript": "NM_001438679.1",
"protein_id": "NP_001425608.1",
"transcript_support_level": null,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4577,
"cds_end": null,
"cds_length": 4905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438679.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4574C>G",
"hgvs_p": "p.Ala1525Gly",
"transcript": "NM_001391905.1",
"protein_id": "NP_001378834.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1633,
"cds_start": 4574,
"cds_end": null,
"cds_length": 4902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391905.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4574C>G",
"hgvs_p": "p.Ala1525Gly",
"transcript": "ENST00000688741.1",
"protein_id": "ENSP00000509547.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1633,
"cds_start": 4574,
"cds_end": null,
"cds_length": 4902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688741.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4541C>G",
"hgvs_p": "p.Ala1514Gly",
"transcript": "NM_001391902.1",
"protein_id": "NP_001378831.1",
"transcript_support_level": null,
"aa_start": 1514,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4541,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391902.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4541C>G",
"hgvs_p": "p.Ala1514Gly",
"transcript": "NM_001391903.1",
"protein_id": "NP_001378832.1",
"transcript_support_level": null,
"aa_start": 1514,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4541,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391903.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4541C>G",
"hgvs_p": "p.Ala1514Gly",
"transcript": "NM_001391904.1",
"protein_id": "NP_001378833.1",
"transcript_support_level": null,
"aa_start": 1514,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4541,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391904.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4538C>G",
"hgvs_p": "p.Ala1513Gly",
"transcript": "NM_001198801.3",
"protein_id": "NP_001185730.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4538,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198801.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4451C>G",
"hgvs_p": "p.Ala1484Gly",
"transcript": "NM_001391901.1",
"protein_id": "NP_001378830.1",
"transcript_support_level": null,
"aa_start": 1484,
"aa_end": null,
"aa_length": 1592,
"cds_start": 4451,
"cds_end": null,
"cds_length": 4779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391901.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4448C>G",
"hgvs_p": "p.Ala1483Gly",
"transcript": "NM_001198802.3",
"protein_id": "NP_001185731.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4448,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198802.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4448C>G",
"hgvs_p": "p.Ala1483Gly",
"transcript": "ENST00000686579.1",
"protein_id": "ENSP00000509941.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4448,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686579.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4430C>G",
"hgvs_p": "p.Ala1477Gly",
"transcript": "NM_001391892.1",
"protein_id": "NP_001378821.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4430,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391892.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4430C>G",
"hgvs_p": "p.Ala1477Gly",
"transcript": "NM_001391893.1",
"protein_id": "NP_001378822.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4430,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391893.1"
},
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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
}