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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: 3-180947913-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=180947913&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 180947913,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000357559.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "NM_005087.4",
"protein_id": "NP_005078.2",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 621,
"cds_start": 247,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 8343,
"mane_select": "ENST00000357559.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "ENST00000357559.9",
"protein_id": "ENSP00000350170.3",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 621,
"cds_start": 247,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 8343,
"mane_select": "NM_005087.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "ENST00000445140.6",
"protein_id": "ENSP00000388828.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 539,
"cds_start": 247,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.-9A>G",
"hgvs_p": null,
"transcript": "NM_001013439.3",
"protein_id": "NP_001013457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.-9A>G",
"hgvs_p": null,
"transcript": "ENST00000305586.11",
"protein_id": "ENSP00000307633.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.-9A>G",
"hgvs_p": null,
"transcript": "NM_001363882.1",
"protein_id": "NP_001350811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.-9A>G",
"hgvs_p": null,
"transcript": "ENST00000468861.5",
"protein_id": "ENSP00000420515.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.-9A>G",
"hgvs_p": null,
"transcript": "ENST00000484958.5",
"protein_id": "ENSP00000419933.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.-9A>G",
"hgvs_p": null,
"transcript": "ENST00000469882.5",
"protein_id": "ENSP00000419793.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.-9A>G",
"hgvs_p": null,
"transcript": "ENST00000465551.5",
"protein_id": "ENSP00000418724.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.-9A>G",
"hgvs_p": null,
"transcript": "ENST00000484790.5",
"protein_id": "ENSP00000417125.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": -4,
"cds_end": null,
"cds_length": 227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "NM_001441509.1",
"protein_id": "NP_001428438.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 677,
"cds_start": 247,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 8511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "NM_001441510.1",
"protein_id": "NP_001428439.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 650,
"cds_start": 247,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "ENST00000698794.1",
"protein_id": "ENSP00000513937.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 650,
"cds_start": 247,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "NM_001441512.1",
"protein_id": "NP_001428441.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 648,
"cds_start": 247,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 8424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Lys70Glu",
"transcript": "ENST00000480918.5",
"protein_id": "ENSP00000418097.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 608,
"cds_start": 208,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "NM_001441513.1",
"protein_id": "NP_001428442.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 595,
"cds_start": 247,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "NM_001441514.1",
"protein_id": "NP_001428443.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 568,
"cds_start": 247,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 8338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "ENST00000698793.1",
"protein_id": "ENSP00000513936.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 568,
"cds_start": 247,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 5294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Lys83Glu",
"transcript": "NM_001013438.3",
"protein_id": "NP_001013456.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 539,
"cds_start": 247,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 8251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Lys34Glu",
"transcript": "NM_001441515.1",
"protein_id": "NP_001428444.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 490,
"cds_start": 100,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 8104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Lys34Glu",
"transcript": "ENST00000491062.5",
"protein_id": "ENSP00000420643.1",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 490,
"cds_start": 100,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXR1",
"gene_hgnc_id": 4023,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Lys87Glu",
"transcript": "ENST00000484042.1",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Congenital myopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital myopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}