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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: 1-45566878-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45566878&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45566878,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006066.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "NM_153326.3",
"protein_id": "NP_697021.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351829.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153326.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000351829.9",
"protein_id": "ENSP00000312606.4",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153326.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351829.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000372070.7",
"protein_id": "ENSP00000361140.3",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372070.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000481885.5",
"protein_id": "ENSP00000476978.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 139,
"cds_start": 214,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481885.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000471651.1",
"protein_id": "ENSP00000476713.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 119,
"cds_start": 214,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.-120C>T",
"hgvs_p": null,
"transcript": "XM_011540491.3",
"protein_id": "XP_011538793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": null,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540491.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863950.1",
"protein_id": "ENSP00000534009.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 332,
"cds_start": 214,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863950.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "NM_001202413.2",
"protein_id": "NP_001189342.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202413.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "NM_001202414.2",
"protein_id": "NP_001189343.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202414.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "NM_006066.4",
"protein_id": "NP_006057.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006066.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000621846.4",
"protein_id": "ENSP00000480713.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621846.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863937.1",
"protein_id": "ENSP00000533996.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863937.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863938.1",
"protein_id": "ENSP00000533997.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863938.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863939.1",
"protein_id": "ENSP00000533998.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863939.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863946.1",
"protein_id": "ENSP00000534005.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863946.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863947.1",
"protein_id": "ENSP00000534006.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863947.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863952.1",
"protein_id": "ENSP00000534011.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863952.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863953.1",
"protein_id": "ENSP00000534012.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863953.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000940609.1",
"protein_id": "ENSP00000610668.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940609.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000962573.1",
"protein_id": "ENSP00000632632.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962573.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000962574.1",
"protein_id": "ENSP00000632633.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 325,
"cds_start": 214,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962574.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1A1",
"gene_hgnc_id": 380,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000863936.1",
"protein_id": "ENSP00000533995.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 296,
"cds_start": 214,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863936.1"
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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
}