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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: 5-74746137-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74746137&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 74746137,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001281302.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "NM_032380.5",
"protein_id": "NP_115756.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296805.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032380.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000296805.8",
"protein_id": "ENSP00000296805.3",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032380.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296805.8"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000509430.5",
"protein_id": "ENSP00000427004.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509430.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000345239.6",
"protein_id": "ENSP00000296804.3",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 732,
"cds_start": 636,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345239.6"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.510delA",
"hgvs_p": "p.Glu171fs",
"transcript": "ENST00000509097.1",
"protein_id": "ENSP00000421717.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 284,
"cds_start": 510,
"cds_end": null,
"cds_length": 856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509097.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.732delA",
"hgvs_p": "p.Glu245fs",
"transcript": "NM_001281302.2",
"protein_id": "NP_001268231.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 811,
"cds_start": 732,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281302.2"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000905367.1",
"protein_id": "ENSP00000575426.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905367.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000905369.1",
"protein_id": "ENSP00000575428.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905369.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000905370.1",
"protein_id": "ENSP00000575429.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905370.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000905371.1",
"protein_id": "ENSP00000575430.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905371.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000905373.1",
"protein_id": "ENSP00000575432.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905373.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000925461.1",
"protein_id": "ENSP00000595520.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925461.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000925463.1",
"protein_id": "ENSP00000595522.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925463.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000925464.1",
"protein_id": "ENSP00000595523.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 779,
"cds_start": 636,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925464.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000905366.1",
"protein_id": "ENSP00000575425.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 734,
"cds_start": 636,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905366.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "NM_170691.3",
"protein_id": "NP_733792.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 732,
"cds_start": 636,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170691.3"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000958297.1",
"protein_id": "ENSP00000628356.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 732,
"cds_start": 636,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958297.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000958298.1",
"protein_id": "ENSP00000628357.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 732,
"cds_start": 636,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958298.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.480delA",
"hgvs_p": "p.Glu161fs",
"transcript": "ENST00000925462.1",
"protein_id": "ENSP00000595521.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 727,
"cds_start": 480,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925462.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000958296.1",
"protein_id": "ENSP00000628355.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 707,
"cds_start": 636,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958296.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000905368.1",
"protein_id": "ENSP00000575427.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 687,
"cds_start": 636,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905368.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.636delA",
"hgvs_p": "p.Glu213fs",
"transcript": "ENST00000905372.1",
"protein_id": "ENSP00000575431.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 632,
"cds_start": 636,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905372.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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{
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],
"clinvar_disease": "Combined oxidative phosphorylation deficiency 39,Mitochondrial disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Combined oxidative phosphorylation deficiency 39|Mitochondrial disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}