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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: 7-45102398-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45102398&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 45102398,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001261834.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "NM_004749.4",
"protein_id": "NP_004740.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258770.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004749.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000258770.8",
"protein_id": "ENSP00000258770.3",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004749.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258770.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Glu314Lys",
"transcript": "ENST00000361278.7",
"protein_id": "ENSP00000354992.3",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 521,
"cds_start": 940,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361278.7"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "n.2559G>A",
"hgvs_p": null,
"transcript": "ENST00000495973.5",
"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": "retained_intron",
"feature": "ENST00000495973.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Glu435Lys",
"transcript": "NM_001261834.2",
"protein_id": "NP_001248763.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 642,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261834.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000494076.5",
"protein_id": "ENSP00000420597.1",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494076.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000895097.1",
"protein_id": "ENSP00000565156.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895097.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000895098.1",
"protein_id": "ENSP00000565157.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895098.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000895106.1",
"protein_id": "ENSP00000565165.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895106.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000895109.1",
"protein_id": "ENSP00000565168.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895109.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000895114.1",
"protein_id": "ENSP00000565173.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895114.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000895115.1",
"protein_id": "ENSP00000565174.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895115.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000934800.1",
"protein_id": "ENSP00000604859.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934800.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000934812.1",
"protein_id": "ENSP00000604871.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934812.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000967965.1",
"protein_id": "ENSP00000638024.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967965.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000967968.1",
"protein_id": "ENSP00000638027.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967968.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000967971.1",
"protein_id": "ENSP00000638030.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967971.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000967973.1",
"protein_id": "ENSP00000638032.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 631,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967973.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000895108.1",
"protein_id": "ENSP00000565167.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 618,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895108.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000934796.1",
"protein_id": "ENSP00000604855.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 618,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934796.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Glu409Lys",
"transcript": "ENST00000895102.1",
"protein_id": "ENSP00000565161.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 616,
"cds_start": 1225,
"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": "ENST00000895102.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Glu409Lys",
"transcript": "ENST00000895103.1",
"protein_id": "ENSP00000565162.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 616,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1851,
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{
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],
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"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
}