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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: 21-37240615-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=37240615&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 37240615,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006052.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "NM_006052.2",
"protein_id": "NP_006043.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 297,
"cds_start": 82,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309117.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006052.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000309117.11",
"protein_id": "ENSP00000311399.6",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 297,
"cds_start": 82,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006052.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309117.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "n.707A>G",
"hgvs_p": null,
"transcript": "ENST00000399000.7",
"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": "pseudogene",
"feature": "ENST00000399000.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "n.173A>G",
"hgvs_p": null,
"transcript": "ENST00000488368.5",
"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": "pseudogene",
"feature": "ENST00000488368.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000942454.1",
"protein_id": "ENSP00000612513.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 337,
"cds_start": 202,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942454.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000942455.1",
"protein_id": "ENSP00000612514.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 323,
"cds_start": 82,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942455.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000929123.1",
"protein_id": "ENSP00000599182.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 319,
"cds_start": 82,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929123.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000875989.1",
"protein_id": "ENSP00000546048.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 295,
"cds_start": 82,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875989.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000875986.1",
"protein_id": "ENSP00000546046.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 294,
"cds_start": 82,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875986.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000929122.1",
"protein_id": "ENSP00000599181.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 290,
"cds_start": 82,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929122.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000875982.1",
"protein_id": "ENSP00000546041.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 285,
"cds_start": 82,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875982.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000875991.1",
"protein_id": "ENSP00000546051.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 275,
"cds_start": 82,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875991.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "NM_001331022.1",
"protein_id": "NP_001317951.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 270,
"cds_start": 82,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331022.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000476950.5",
"protein_id": "ENSP00000419496.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 270,
"cds_start": 82,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476950.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000942456.1",
"protein_id": "ENSP00000612515.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 268,
"cds_start": 82,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942456.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000875984.1",
"protein_id": "ENSP00000546043.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 258,
"cds_start": 82,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875984.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000942457.1",
"protein_id": "ENSP00000612516.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 235,
"cds_start": 82,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942457.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000875971.1",
"protein_id": "ENSP00000546031.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 220,
"cds_start": 82,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875971.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000929124.1",
"protein_id": "ENSP00000599183.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 208,
"cds_start": 82,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929124.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.58-2006A>G",
"hgvs_p": null,
"transcript": "ENST00000942458.1",
"protein_id": "ENSP00000612517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.58-2006A>G",
"hgvs_p": null,
"transcript": "NM_001331021.1",
"protein_id": "NP_001317950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VPS26C",
"gene_hgnc_id": 3044,
"hgvs_c": "c.58-2006A>G",
"hgvs_p": null,
"transcript": "ENST00000398998.1",
"protein_id": "ENSP00000381964.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398998.1"
},
{
"aa_ref": null,
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{
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "VPS26C-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}