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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: 16-58735-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58735&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 58735,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022450.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "NM_022450.5",
"protein_id": "NP_071895.3",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262316.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022450.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000262316.10",
"protein_id": "ENSP00000262316.5",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022450.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262316.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2281G>C",
"hgvs_p": "p.Gly761Arg",
"transcript": "ENST00000944434.1",
"protein_id": "ENSP00000614493.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 891,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944434.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2281G>C",
"hgvs_p": "p.Gly761Arg",
"transcript": "ENST00000944435.1",
"protein_id": "ENSP00000614494.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 891,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944435.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2281G>C",
"hgvs_p": "p.Gly761Arg",
"transcript": "ENST00000944437.1",
"protein_id": "ENSP00000614496.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 891,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944437.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2281G>C",
"hgvs_p": "p.Gly761Arg",
"transcript": "ENST00000944440.1",
"protein_id": "ENSP00000614499.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 891,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944440.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000886898.1",
"protein_id": "ENSP00000556957.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886898.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000886900.1",
"protein_id": "ENSP00000556959.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886900.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000886902.1",
"protein_id": "ENSP00000556961.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886902.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000886904.1",
"protein_id": "ENSP00000556963.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886904.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000917250.1",
"protein_id": "ENSP00000587309.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917250.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000944433.1",
"protein_id": "ENSP00000614492.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944433.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000944436.1",
"protein_id": "ENSP00000614495.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944436.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2173G>C",
"hgvs_p": "p.Gly725Arg",
"transcript": "ENST00000944444.1",
"protein_id": "ENSP00000614503.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 855,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944444.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2170G>C",
"hgvs_p": "p.Gly724Arg",
"transcript": "ENST00000944442.1",
"protein_id": "ENSP00000614501.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 854,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944442.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2146G>C",
"hgvs_p": "p.Gly716Arg",
"transcript": "ENST00000944439.1",
"protein_id": "ENSP00000614498.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 846,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944439.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2125G>C",
"hgvs_p": "p.Gly709Arg",
"transcript": "ENST00000944443.1",
"protein_id": "ENSP00000614502.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 839,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944443.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2119G>C",
"hgvs_p": "p.Gly707Arg",
"transcript": "ENST00000944438.1",
"protein_id": "ENSP00000614497.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 837,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944438.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2119G>C",
"hgvs_p": "p.Gly707Arg",
"transcript": "ENST00000944441.1",
"protein_id": "ENSP00000614500.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 837,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944441.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2095G>C",
"hgvs_p": "p.Gly699Arg",
"transcript": "ENST00000886903.1",
"protein_id": "ENSP00000556962.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 829,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886903.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2038G>C",
"hgvs_p": "p.Gly680Arg",
"transcript": "ENST00000886899.1",
"protein_id": "ENSP00000556958.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 810,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886899.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.2038G>C",
"hgvs_p": "p.Gly680Arg",
"transcript": "ENST00000917253.1",
"protein_id": "ENSP00000587312.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 810,
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{
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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
}