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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: 17-54937182-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=54937182&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 54937182,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005486.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "NM_005486.3",
"protein_id": "NP_005477.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 476,
"cds_start": 989,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000575882.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005486.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000575882.6",
"protein_id": "ENSP00000460823.1",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 476,
"cds_start": 989,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005486.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575882.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000575333.5",
"protein_id": "ENSP00000458918.1",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 346,
"cds_start": 989,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575333.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "n.758C>T",
"hgvs_p": null,
"transcript": "ENST00000576932.5",
"protein_id": "ENSP00000461876.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000576932.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000851795.1",
"protein_id": "ENSP00000521854.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 508,
"cds_start": 989,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851795.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000851789.1",
"protein_id": "ENSP00000521848.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 476,
"cds_start": 989,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851789.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000851790.1",
"protein_id": "ENSP00000521849.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 476,
"cds_start": 989,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851790.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000940214.1",
"protein_id": "ENSP00000610273.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 476,
"cds_start": 989,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940214.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Ile",
"transcript": "ENST00000572158.5",
"protein_id": "ENSP00000461284.1",
"transcript_support_level": 2,
"aa_start": 323,
"aa_end": null,
"aa_length": 469,
"cds_start": 968,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572158.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Ile",
"transcript": "ENST00000964388.1",
"protein_id": "ENSP00000634447.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 469,
"cds_start": 968,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964388.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000445275.6",
"protein_id": "ENSP00000408958.2",
"transcript_support_level": 2,
"aa_start": 330,
"aa_end": null,
"aa_length": 465,
"cds_start": 989,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445275.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000851792.1",
"protein_id": "ENSP00000521851.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 465,
"cds_start": 989,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851792.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000964387.1",
"protein_id": "ENSP00000634446.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 465,
"cds_start": 989,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964387.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Ile",
"transcript": "ENST00000851793.1",
"protein_id": "ENSP00000521852.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 458,
"cds_start": 968,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851793.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000964386.1",
"protein_id": "ENSP00000634445.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 439,
"cds_start": 989,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964386.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Thr253Ile",
"transcript": "NM_001321174.2",
"protein_id": "NP_001308103.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 399,
"cds_start": 758,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321174.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Thr253Ile",
"transcript": "NM_001321175.2",
"protein_id": "NP_001308104.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 399,
"cds_start": 758,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321175.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Thr253Ile",
"transcript": "NM_001321176.2",
"protein_id": "NP_001308105.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 399,
"cds_start": 758,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321176.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Thr253Ile",
"transcript": "ENST00000348161.8",
"protein_id": "ENSP00000343901.4",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 399,
"cds_start": 758,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348161.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Thr253Ile",
"transcript": "ENST00000536554.5",
"protein_id": "ENSP00000443099.1",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 399,
"cds_start": 758,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536554.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Ile",
"transcript": "ENST00000851791.1",
"protein_id": "ENSP00000521850.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 396,
"cds_start": 989,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851791.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L1",
"gene_hgnc_id": 11983,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Ile",
"transcript": "ENST00000851797.1",
"protein_id": "ENSP00000521856.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 389,
"cds_start": 968,
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"phenotype_combined": "not specified",
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}
],
"message": null
}