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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: 2-218634129-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218634129&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218634129,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032726.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Thr544Ile",
"transcript": "NM_032726.4",
"protein_id": "NP_116115.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 762,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450993.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032726.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Thr544Ile",
"transcript": "ENST00000450993.7",
"protein_id": "ENSP00000388631.2",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 762,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032726.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450993.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "ENST00000432688.5",
"protein_id": "ENSP00000396185.1",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 794,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432688.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Thr544Ile",
"transcript": "ENST00000417849.5",
"protein_id": "ENSP00000396942.1",
"transcript_support_level": 5,
"aa_start": 544,
"aa_end": null,
"aa_length": 762,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417849.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.*4210G>A",
"hgvs_p": null,
"transcript": "NM_001379659.1",
"protein_id": "NP_001366588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": null,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000411696.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.*4210G>A",
"hgvs_p": null,
"transcript": "ENST00000411696.7",
"protein_id": "ENSP00000398798.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": null,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001379659.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411696.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "ENST00000944043.1",
"protein_id": "ENSP00000614102.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 794,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944043.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1622C>T",
"hgvs_p": "p.Thr541Ile",
"transcript": "ENST00000944045.1",
"protein_id": "ENSP00000614104.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 759,
"cds_start": 1622,
"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": "ENST00000944045.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1574C>T",
"hgvs_p": "p.Thr525Ile",
"transcript": "ENST00000944044.1",
"protein_id": "ENSP00000614103.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 743,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944044.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1478C>T",
"hgvs_p": "p.Thr493Ile",
"transcript": "ENST00000867505.1",
"protein_id": "ENSP00000537564.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 711,
"cds_start": 1478,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867505.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000867504.1",
"protein_id": "ENSP00000537563.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 709,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867504.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1850C>T",
"hgvs_p": "p.Thr617Ile",
"transcript": "XM_047446072.1",
"protein_id": "XP_047302028.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 861,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446072.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1850C>T",
"hgvs_p": "p.Thr617Ile",
"transcript": "XM_047446074.1",
"protein_id": "XP_047302030.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 861,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446074.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1850C>T",
"hgvs_p": "p.Thr617Ile",
"transcript": "XM_047446075.1",
"protein_id": "XP_047302031.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 861,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446075.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1850C>T",
"hgvs_p": "p.Thr617Ile",
"transcript": "XM_047446076.1",
"protein_id": "XP_047302032.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 835,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446076.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "XM_011512012.2",
"protein_id": "XP_011510314.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 820,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512012.2"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1697C>T",
"hgvs_p": "p.Thr566Ile",
"transcript": "XM_047446077.1",
"protein_id": "XP_047302033.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 810,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446077.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Thr576Ile",
"transcript": "XM_024453182.2",
"protein_id": "XP_024308950.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 794,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453182.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Thr544Ile",
"transcript": "XM_005246913.3",
"protein_id": "XP_005246970.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 788,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246913.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCD4",
"gene_hgnc_id": 9062,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Leu492Phe",
"transcript": "XM_047446078.1",
"protein_id": "XP_047302034.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 494,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.*4210G>A",
"hgvs_p": null,
"transcript": "NM_001366290.3",
"protein_id": "NP_001353219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": null,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366290.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.*4210G>A",
"hgvs_p": null,
"transcript": "NM_001379660.1",
"protein_id": "NP_001366589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": null,
"cds_end": null,
"cds_length": 5664,
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"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
}