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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: 12-50177648-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50177648&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50177648,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001113546.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Glu566Lys",
"transcript": "NM_016357.5",
"protein_id": "NP_057441.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 759,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341247.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016357.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Glu566Lys",
"transcript": "ENST00000341247.9",
"protein_id": "ENSP00000340184.4",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 759,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016357.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341247.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000394943.7",
"protein_id": "ENSP00000378400.3",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394943.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Glu407Lys",
"transcript": "ENST00000552783.5",
"protein_id": "ENSP00000448779.1",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 600,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552783.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Glu405Lys",
"transcript": "ENST00000552909.5",
"protein_id": "ENSP00000450087.1",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 598,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552909.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Glu264Lys",
"transcript": "ENST00000547825.5",
"protein_id": "ENSP00000448706.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 457,
"cds_start": 790,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547825.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "n.*588G>A",
"hgvs_p": null,
"transcript": "ENST00000552720.5",
"protein_id": "ENSP00000448411.1",
"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": "ENST00000552720.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "n.*588G>A",
"hgvs_p": null,
"transcript": "ENST00000552720.5",
"protein_id": "ENSP00000448411.1",
"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": "ENST00000552720.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Glu598Lys",
"transcript": "ENST00000872660.1",
"protein_id": "ENSP00000542719.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 791,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872660.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "NM_001113546.2",
"protein_id": "NP_001107018.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113546.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "NM_001394886.1",
"protein_id": "NP_001381815.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394886.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000872658.1",
"protein_id": "ENSP00000542717.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872658.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000872661.1",
"protein_id": "ENSP00000542720.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872661.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000872662.1",
"protein_id": "ENSP00000542721.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872662.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000872663.1",
"protein_id": "ENSP00000542722.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872663.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000872664.1",
"protein_id": "ENSP00000542723.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872664.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000872665.1",
"protein_id": "ENSP00000542724.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 760,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872665.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Glu566Lys",
"transcript": "NM_001394887.1",
"protein_id": "NP_001381816.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 759,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394887.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Glu566Lys",
"transcript": "NM_001394888.1",
"protein_id": "NP_001381817.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 759,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394888.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Glu566Lys",
"transcript": "NM_001394889.1",
"protein_id": "NP_001381818.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 759,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394889.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Glu566Lys",
"transcript": "ENST00000872659.1",
"protein_id": "ENSP00000542718.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 759,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872659.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.1693G>A",
"hgvs_p": "p.Glu565Lys",
"transcript": "NM_001394890.1",
"protein_id": "NP_001381819.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 758,
"cds_start": 1693,
"cds_end": null,
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"cdna_start": null,
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}