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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: 10-101579778-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101579778&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101579778,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013274.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "NM_001174084.2",
"protein_id": "NP_001167555.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370162.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174084.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000370162.8",
"protein_id": "ENSP00000359181.3",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001174084.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370162.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000299206.8",
"protein_id": "ENSP00000299206.4",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299206.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000370169.5",
"protein_id": "ENSP00000359188.1",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370169.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Gly191Asp",
"transcript": "ENST00000339310.7",
"protein_id": "ENSP00000343102.3",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 298,
"cds_start": 572,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339310.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.422G>A",
"hgvs_p": "p.Gly141Asp",
"transcript": "ENST00000370168.7",
"protein_id": "ENSP00000359187.3",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 248,
"cds_start": 422,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370168.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "n.2018G>A",
"hgvs_p": null,
"transcript": "ENST00000463515.1",
"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": "ENST00000463515.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Gly509Asp",
"transcript": "ENST00000882366.1",
"protein_id": "ENSP00000552425.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 616,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882366.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Gly475Asp",
"transcript": "ENST00000882361.1",
"protein_id": "ENSP00000552420.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 582,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882361.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Gly475Asp",
"transcript": "ENST00000937314.1",
"protein_id": "ENSP00000607373.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 582,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937314.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Gly475Asp",
"transcript": "ENST00000937319.1",
"protein_id": "ENSP00000607378.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 582,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937319.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Gly475Asp",
"transcript": "ENST00000942761.1",
"protein_id": "ENSP00000612820.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 582,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942761.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Asp",
"transcript": "ENST00000937307.1",
"protein_id": "ENSP00000607366.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 581,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937307.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Asp",
"transcript": "ENST00000937318.1",
"protein_id": "ENSP00000607377.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 581,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937318.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "NM_013274.4",
"protein_id": "NP_037406.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013274.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000882356.1",
"protein_id": "ENSP00000552415.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882356.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000882362.1",
"protein_id": "ENSP00000552421.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882362.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000882367.1",
"protein_id": "ENSP00000552426.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882367.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000937306.1",
"protein_id": "ENSP00000607365.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937306.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000937310.1",
"protein_id": "ENSP00000607369.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937310.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Asp",
"transcript": "ENST00000937311.1",
"protein_id": "ENSP00000607370.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937311.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Gly467Asp",
"transcript": "ENST00000942758.1",
"protein_id": "ENSP00000612817.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 574,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942758.1"
},
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"splice_prediction_selected": "Benign",
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{
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"BS2"
],
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{
"score": -6,
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"BS2"
],
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],
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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
}