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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: 1-43206744-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43206744&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43206744,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001195831.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "NM_001378189.1",
"protein_id": "NP_001365118.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372492.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378189.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "ENST00000372492.9",
"protein_id": "ENSP00000361570.4",
"transcript_support_level": 5,
"aa_start": 523,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378189.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372492.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "n.*1466G>T",
"hgvs_p": null,
"transcript": "ENST00000533339.1",
"protein_id": "ENSP00000432547.1",
"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": "ENST00000533339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "n.*1466G>T",
"hgvs_p": null,
"transcript": "ENST00000533339.1",
"protein_id": "ENSP00000432547.1",
"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": "ENST00000533339.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "NM_001195831.3",
"protein_id": "NP_001182760.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195831.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "ENST00000610710.4",
"protein_id": "ENSP00000479773.1",
"transcript_support_level": 5,
"aa_start": 523,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610710.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "ENST00000891681.1",
"protein_id": "ENSP00000561740.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891681.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "ENST00000954489.1",
"protein_id": "ENSP00000624548.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954489.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "ENST00000891680.1",
"protein_id": "ENSP00000561739.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891680.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "NM_001167965.1",
"protein_id": "NP_001161437.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 698,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167965.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "NM_152498.3",
"protein_id": "NP_689711.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 698,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152498.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "ENST00000528956.5",
"protein_id": "ENSP00000435310.1",
"transcript_support_level": 2,
"aa_start": 523,
"aa_end": null,
"aa_length": 698,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528956.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "XM_017000422.3",
"protein_id": "XP_016855911.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000422.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "XM_011540793.1",
"protein_id": "XP_011539095.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540793.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "XM_011540794.2",
"protein_id": "XP_011539096.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540794.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "XM_011540795.4",
"protein_id": "XP_011539097.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540795.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1534G>T",
"hgvs_p": "p.Asp512Tyr",
"transcript": "XM_006710383.2",
"protein_id": "XP_006710446.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1534,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710383.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1534G>T",
"hgvs_p": "p.Asp512Tyr",
"transcript": "XM_011540796.2",
"protein_id": "XP_011539098.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1534,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540796.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1534G>T",
"hgvs_p": "p.Asp512Tyr",
"transcript": "XM_047447331.1",
"protein_id": "XP_047303287.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1534,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447331.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1504G>T",
"hgvs_p": "p.Asp502Tyr",
"transcript": "XM_011540797.3",
"protein_id": "XP_011539099.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1229,
"cds_start": 1504,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540797.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "XM_047447334.1",
"protein_id": "XP_047303290.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447334.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"transcript": "XM_011540800.3",
"protein_id": "XP_011539102.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1062,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
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{
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Van der Woude syndrome 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}