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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: 9-113275748-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113275748&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 113275748,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004697.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "NM_001244926.2",
"protein_id": "NP_001231855.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 521,
"cds_start": 5,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374198.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244926.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000374198.5",
"protein_id": "ENSP00000363313.4",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 521,
"cds_start": 5,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001244926.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374198.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000374199.9",
"protein_id": "ENSP00000363315.4",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 522,
"cds_start": 5,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374199.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000921177.1",
"protein_id": "ENSP00000591236.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 609,
"cds_start": 5,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921177.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000921173.1",
"protein_id": "ENSP00000591232.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 540,
"cds_start": 5,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921173.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "NM_004697.5",
"protein_id": "NP_004688.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 522,
"cds_start": 5,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004697.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000921172.1",
"protein_id": "ENSP00000591231.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 520,
"cds_start": 5,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921172.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000894605.1",
"protein_id": "ENSP00000564664.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 513,
"cds_start": 5,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894605.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000921176.1",
"protein_id": "ENSP00000591235.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 506,
"cds_start": 5,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921176.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000894604.1",
"protein_id": "ENSP00000564663.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 486,
"cds_start": 5,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894604.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000921174.1",
"protein_id": "ENSP00000591233.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 485,
"cds_start": 5,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921174.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000945708.1",
"protein_id": "ENSP00000615767.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 481,
"cds_start": 5,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945708.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000921175.1",
"protein_id": "ENSP00000591234.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 460,
"cds_start": 5,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.-761C>T",
"hgvs_p": null,
"transcript": "NM_001322266.2",
"protein_id": "NP_001309195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322266.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "c.-764C>T",
"hgvs_p": null,
"transcript": "NM_001322267.2",
"protein_id": "NP_001309196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322267.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "n.91C>T",
"hgvs_p": null,
"transcript": "NR_136265.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_136265.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF4",
"gene_hgnc_id": 17349,
"hgvs_c": "n.91C>T",
"hgvs_p": null,
"transcript": "NR_136266.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_136266.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC26",
"gene_hgnc_id": 17839,
"hgvs_c": "c.-518G>A",
"hgvs_p": null,
"transcript": "NM_139286.4",
"protein_id": "NP_644815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374206.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139286.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC26",
"gene_hgnc_id": 17839,
"hgvs_c": "c.-518G>A",
"hgvs_p": null,
"transcript": "ENST00000374206.4",
"protein_id": "ENSP00000363322.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139286.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374206.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC26",
"gene_hgnc_id": 17839,
"hgvs_c": "c.-490G>A",
"hgvs_p": null,
"transcript": "ENST00000868464.1",
"protein_id": "ENSP00000538523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC26",
"gene_hgnc_id": 17839,
"hgvs_c": "c.-522G>A",
"hgvs_p": null,
"transcript": "ENST00000868465.1",
"protein_id": "ENSP00000538524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC26",
"gene_hgnc_id": 17839,
"hgvs_c": "c.-2461G>A",
"hgvs_p": null,
"transcript": "ENST00000868466.1",
"protein_id": "ENSP00000538525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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{
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Retinal dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}