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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: 10-93692034-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=93692034&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 93692034,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_145246.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "NM_145246.5",
"protein_id": "NP_660289.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359204.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145246.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000359204.5",
"protein_id": "ENSP00000360488.3",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145246.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359204.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.443A>C",
"hgvs_p": "p.Asp148Ala",
"transcript": "ENST00000959343.1",
"protein_id": "ENSP00000629402.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 316,
"cds_start": 443,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959343.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "NM_001347712.2",
"protein_id": "NP_001334641.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347712.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "NM_001347713.2",
"protein_id": "NP_001334642.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347713.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "NM_001347714.2",
"protein_id": "NP_001334643.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347714.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "NM_001347715.2",
"protein_id": "NP_001334644.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347715.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000905754.1",
"protein_id": "ENSP00000575813.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905754.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000905755.1",
"protein_id": "ENSP00000575814.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905755.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000905756.1",
"protein_id": "ENSP00000575815.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905756.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000905758.1",
"protein_id": "ENSP00000575817.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905758.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000905759.1",
"protein_id": "ENSP00000575818.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905759.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000905760.1",
"protein_id": "ENSP00000575819.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905760.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000905762.1",
"protein_id": "ENSP00000575821.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905762.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000920719.1",
"protein_id": "ENSP00000590778.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920719.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000920721.1",
"protein_id": "ENSP00000590780.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920721.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000920724.1",
"protein_id": "ENSP00000590783.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920724.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000959338.1",
"protein_id": "ENSP00000629397.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959338.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000959341.1",
"protein_id": "ENSP00000629400.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959341.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000959342.1",
"protein_id": "ENSP00000629401.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959342.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000905757.1",
"protein_id": "ENSP00000575816.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 314,
"cds_start": 440,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905757.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRA10AC1",
"gene_hgnc_id": 1162,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000959337.1",
"protein_id": "ENSP00000629396.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 314,
"cds_start": 440,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phylop100way_prediction": "Pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}