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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: 16-4513746-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4513746&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4513746,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013399.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "NM_013399.3",
"protein_id": "NP_037531.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000567695.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013399.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000567695.6",
"protein_id": "ENSP00000457877.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013399.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567695.6"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000399599.7",
"protein_id": "ENSP00000382508.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399599.7"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000563332.6",
"protein_id": "ENSP00000454994.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563332.6"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.86C>A",
"hgvs_p": "p.Pro29His",
"transcript": "ENST00000564828.5",
"protein_id": "ENSP00000456461.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 52,
"cds_start": 86,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564828.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Pro75His",
"transcript": "ENST00000921888.1",
"protein_id": "ENSP00000591947.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 219,
"cds_start": 224,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921888.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "NM_001199054.2",
"protein_id": "NP_001185983.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199054.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857432.1",
"protein_id": "ENSP00000527491.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857432.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857433.1",
"protein_id": "ENSP00000527492.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857433.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857434.1",
"protein_id": "ENSP00000527493.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857434.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857435.1",
"protein_id": "ENSP00000527494.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857435.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857436.1",
"protein_id": "ENSP00000527495.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857436.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857437.1",
"protein_id": "ENSP00000527496.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857437.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857439.1",
"protein_id": "ENSP00000527498.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857439.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857440.1",
"protein_id": "ENSP00000527499.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857440.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857441.1",
"protein_id": "ENSP00000527500.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857441.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857442.1",
"protein_id": "ENSP00000527501.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857442.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857443.1",
"protein_id": "ENSP00000527502.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857443.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857444.1",
"protein_id": "ENSP00000527503.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857444.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857445.1",
"protein_id": "ENSP00000527504.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857445.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857446.1",
"protein_id": "ENSP00000527505.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857446.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIP1",
"gene_hgnc_id": 13234,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000857447.1",
"protein_id": "ENSP00000527506.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 208,
"cds_start": 191,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857447.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
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}