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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: 14-24118141-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24118141&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24118141,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_025230.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "NM_025230.5",
"protein_id": "NP_079506.3",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446197.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025230.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000446197.8",
"protein_id": "ENSP00000415556.4",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025230.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446197.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000559115.5",
"protein_id": "ENSP00000452898.1",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559115.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Met88Thr",
"transcript": "ENST00000396936.5",
"protein_id": "ENSP00000380142.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 446,
"cds_start": 263,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396936.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*324T>C",
"hgvs_p": null,
"transcript": "ENST00000326009.9",
"protein_id": "ENSP00000323680.5",
"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": "ENST00000326009.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*259T>C",
"hgvs_p": null,
"transcript": "ENST00000557802.5",
"protein_id": "ENSP00000453462.1",
"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": "ENST00000557802.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*324T>C",
"hgvs_p": null,
"transcript": "ENST00000326009.9",
"protein_id": "ENSP00000323680.5",
"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": "ENST00000326009.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*259T>C",
"hgvs_p": null,
"transcript": "ENST00000557802.5",
"protein_id": "ENSP00000453462.1",
"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": "ENST00000557802.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "NM_001163484.2",
"protein_id": "NP_001156956.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163484.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000905287.1",
"protein_id": "ENSP00000575346.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905287.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000905288.1",
"protein_id": "ENSP00000575347.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905288.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000905289.1",
"protein_id": "ENSP00000575348.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905289.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000905292.1",
"protein_id": "ENSP00000575351.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905292.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000905293.1",
"protein_id": "ENSP00000575352.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905293.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000905294.1",
"protein_id": "ENSP00000575353.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905294.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000905297.1",
"protein_id": "ENSP00000575356.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905297.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000905298.1",
"protein_id": "ENSP00000575357.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905298.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000933294.1",
"protein_id": "ENSP00000603353.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933294.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000933295.1",
"protein_id": "ENSP00000603354.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933295.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Met188Thr",
"transcript": "ENST00000942878.1",
"protein_id": "ENSP00000612937.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 546,
"cds_start": 563,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942878.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.533T>C",
"hgvs_p": "p.Met178Thr",
"transcript": "ENST00000942879.1",
"protein_id": "ENSP00000612938.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 536,
"cds_start": 533,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942879.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Met162Thr",
"transcript": "NM_181357.2",
"protein_id": "NP_852002.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 520,
"cds_start": 485,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"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
}