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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: 4-680557-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=680557&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 680557,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002477.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "NM_002477.2",
"protein_id": "NP_002468.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400159.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002477.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000400159.7",
"protein_id": "ENSP00000383023.2",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002477.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400159.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Pro73Leu",
"transcript": "ENST00000511290.5",
"protein_id": "ENSP00000425162.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 132,
"cds_start": 218,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511290.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "NM_001395441.1",
"protein_id": "NP_001382370.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395441.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "NM_001395442.1",
"protein_id": "NP_001382371.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395442.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "NM_001395443.1",
"protein_id": "NP_001382372.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395443.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000894694.1",
"protein_id": "ENSP00000564753.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894694.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000894695.1",
"protein_id": "ENSP00000564754.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894695.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000894696.1",
"protein_id": "ENSP00000564755.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894696.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000894697.1",
"protein_id": "ENSP00000564756.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894697.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000894698.1",
"protein_id": "ENSP00000564757.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894698.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000931855.1",
"protein_id": "ENSP00000601914.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931855.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000931856.1",
"protein_id": "ENSP00000601915.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931856.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000931857.1",
"protein_id": "ENSP00000601916.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931857.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000931858.1",
"protein_id": "ENSP00000601917.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931858.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000931859.1",
"protein_id": "ENSP00000601918.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931859.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000931860.1",
"protein_id": "ENSP00000601919.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931860.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000965683.1",
"protein_id": "ENSP00000635742.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965683.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "ENST00000965684.1",
"protein_id": "ENSP00000635743.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 173,
"cds_start": 341,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965684.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Pro73Leu",
"transcript": "NM_001363650.2",
"protein_id": "NP_001350579.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 132,
"cds_start": 218,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363650.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Pro73Leu",
"transcript": "NM_001395444.1",
"protein_id": "NP_001382373.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 132,
"cds_start": 218,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395444.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Pro73Leu",
"transcript": "NM_001395445.1",
"protein_id": "NP_001382374.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 132,
"cds_start": 218,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395445.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007057974.1",
"gene_symbol": "SLC49A3",
"hgnc_id": 26177,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1284+2224G>A",
"hgvs_p": null
}
],
"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
}