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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: 1-28993348-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=28993348&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 28993348,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001166005.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "NM_001376013.1",
"protein_id": "NP_001362942.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 864,
"cds_start": 487,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343067.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376013.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000343067.9",
"protein_id": "ENSP00000345259.4",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 864,
"cds_start": 487,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376013.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343067.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000349460.9",
"protein_id": "ENSP00000317597.8",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 841,
"cds_start": 487,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349460.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000347529.7",
"protein_id": "ENSP00000290100.6",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 775,
"cds_start": 487,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347529.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000373797.2",
"protein_id": "ENSP00000362903.1",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 720,
"cds_start": 487,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373797.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-141A>G",
"hgvs_p": null,
"transcript": "ENST00000373800.7",
"protein_id": "ENSP00000362906.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": null,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373800.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921693.1",
"protein_id": "ENSP00000591752.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 1014,
"cds_start": 487,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921693.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921699.1",
"protein_id": "ENSP00000591758.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 1013,
"cds_start": 487,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921699.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921709.1",
"protein_id": "ENSP00000591768.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 1013,
"cds_start": 487,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921709.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921705.1",
"protein_id": "ENSP00000591764.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 999,
"cds_start": 487,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921705.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000870253.1",
"protein_id": "ENSP00000540312.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 981,
"cds_start": 487,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870253.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921702.1",
"protein_id": "ENSP00000591761.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 980,
"cds_start": 487,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921702.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921711.1",
"protein_id": "ENSP00000591770.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 968,
"cds_start": 487,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921711.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921723.1",
"protein_id": "ENSP00000591782.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 966,
"cds_start": 487,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921723.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921694.1",
"protein_id": "ENSP00000591753.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 965,
"cds_start": 487,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921694.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921701.1",
"protein_id": "ENSP00000591760.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 959,
"cds_start": 487,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921701.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921703.1",
"protein_id": "ENSP00000591762.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 947,
"cds_start": 487,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921703.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921719.1",
"protein_id": "ENSP00000591778.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 946,
"cds_start": 487,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921719.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921722.1",
"protein_id": "ENSP00000591781.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 946,
"cds_start": 487,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921722.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921724.1",
"protein_id": "ENSP00000591783.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 946,
"cds_start": 487,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921724.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921697.1",
"protein_id": "ENSP00000591756.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 945,
"cds_start": 487,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921697.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "ENST00000921695.1",
"protein_id": "ENSP00000591754.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 933,
"cds_start": 487,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Elliptocytosis 1",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}