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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: 16-59478-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=59478&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 59478,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022450.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "NM_022450.5",
"protein_id": "NP_071895.3",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000262316.10",
"protein_id": "ENSP00000262316.5",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Trp",
"transcript": "ENST00000944434.1",
"protein_id": "ENSP00000614493.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 891,
"cds_start": 1942,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Trp",
"transcript": "ENST00000944435.1",
"protein_id": "ENSP00000614494.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 891,
"cds_start": 1942,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Trp",
"transcript": "ENST00000944437.1",
"protein_id": "ENSP00000614496.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 891,
"cds_start": 1942,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Trp",
"transcript": "ENST00000944440.1",
"protein_id": "ENSP00000614499.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 891,
"cds_start": 1942,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000886898.1",
"protein_id": "ENSP00000556957.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000886900.1",
"protein_id": "ENSP00000556959.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000886902.1",
"protein_id": "ENSP00000556961.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000886904.1",
"protein_id": "ENSP00000556963.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000917250.1",
"protein_id": "ENSP00000587309.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000944433.1",
"protein_id": "ENSP00000614492.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000944436.1",
"protein_id": "ENSP00000614495.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000944444.1",
"protein_id": "ENSP00000614503.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 855,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Trp",
"transcript": "ENST00000944442.1",
"protein_id": "ENSP00000614501.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 854,
"cds_start": 1831,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Trp",
"transcript": "ENST00000944439.1",
"protein_id": "ENSP00000614498.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 846,
"cds_start": 1942,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Arg596Trp",
"transcript": "ENST00000944443.1",
"protein_id": "ENSP00000614502.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 839,
"cds_start": 1786,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Arg594Trp",
"transcript": "ENST00000944438.1",
"protein_id": "ENSP00000614497.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 837,
"cds_start": 1780,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Arg594Trp",
"transcript": "ENST00000944441.1",
"protein_id": "ENSP00000614500.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 837,
"cds_start": 1780,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1756C>T",
"hgvs_p": "p.Arg586Trp",
"transcript": "ENST00000886903.1",
"protein_id": "ENSP00000556962.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 829,
"cds_start": 1756,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000886899.1",
"protein_id": "ENSP00000556958.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 810,
"cds_start": 1834,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000917253.1",
"protein_id": "ENSP00000587312.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 810,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}