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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: 20-1372159-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1372159&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1372159,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000801.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"transcript": "NM_000801.5",
"protein_id": "NP_000792.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 108,
"cds_start": 280,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400137.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000801.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"transcript": "ENST00000400137.9",
"protein_id": "ENSP00000383003.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 108,
"cds_start": 280,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000801.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400137.9"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"transcript": "ENST00000381719.8",
"protein_id": "ENSP00000371138.3",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 108,
"cds_start": 280,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381719.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.167C>G",
"hgvs_p": "p.Thr56Ser",
"transcript": "ENST00000618612.5",
"protein_id": "ENSP00000478093.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 97,
"cds_start": 167,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618612.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDCBP2-AS1",
"gene_hgnc_id": 44314,
"hgvs_c": "n.126-919G>C",
"hgvs_p": null,
"transcript": "ENST00000609470.7",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000609470.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000274322",
"gene_hgnc_id": null,
"hgvs_c": "n.204+19444C>G",
"hgvs_p": null,
"transcript": "ENST00000617804.1",
"protein_id": "ENSP00000479180.1",
"transcript_support_level": 4,
"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": "ENST00000617804.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"transcript": "NM_054014.4",
"protein_id": "NP_463460.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 108,
"cds_start": 280,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_054014.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"transcript": "ENST00000678408.1",
"protein_id": "ENSP00000503152.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 108,
"cds_start": 280,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678408.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"transcript": "ENST00000915649.1",
"protein_id": "ENSP00000585708.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 108,
"cds_start": 280,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915649.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.167C>G",
"hgvs_p": "p.Thr56Ser",
"transcript": "NM_001199786.2",
"protein_id": "NP_001186715.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 97,
"cds_start": 167,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199786.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "ENST00000439640.5",
"protein_id": "ENSP00000409863.2",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 232,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439640.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "ENST00000915650.1",
"protein_id": "ENSP00000585709.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 232,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915650.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.167C>G",
"hgvs_p": "p.Thr56Ser",
"transcript": "ENST00000381715.4",
"protein_id": "ENSP00000371134.2",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 89,
"cds_start": 167,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381715.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"transcript": "ENST00000904223.1",
"protein_id": "ENSP00000574282.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 87,
"cds_start": 217,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "n.280C>G",
"hgvs_p": null,
"transcript": "ENST00000381724.8",
"protein_id": "ENSP00000371143.4",
"transcript_support_level": 2,
"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": "ENST00000381724.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "n.334C>G",
"hgvs_p": null,
"transcript": "ENST00000460490.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000460490.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "n.232C>G",
"hgvs_p": null,
"transcript": "ENST00000474657.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000474657.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "n.382C>G",
"hgvs_p": null,
"transcript": "ENST00000474726.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000474726.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "n.*248C>G",
"hgvs_p": null,
"transcript": "ENST00000612074.5",
"protein_id": "ENSP00000480846.1",
"transcript_support_level": 2,
"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": "ENST00000612074.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "n.280C>G",
"hgvs_p": null,
"transcript": "ENST00000677335.1",
"protein_id": "ENSP00000503033.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000677335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "n.400C>G",
"hgvs_p": null,
"transcript": "ENST00000677937.1",
"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": "retained_intron",
"feature": "ENST00000677937.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1A",
"gene_hgnc_id": 3711,
"hgvs_c": "n.*248C>G",
"hgvs_p": null,
"transcript": "ENST00000678136.1",
"protein_id": "ENSP00000503279.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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{
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{
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"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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},
{
"score": 0,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000609470.7",
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},
{
"score": 0,
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"gene_symbol": "FKBP1A-SDCBP2",
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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
}