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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: 16-19555551-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19555551&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19555551,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000251143.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Ala30Val",
"transcript": "ENST00000251143.9",
"protein_id": "ENSP00000251143.6",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 1052,
"cds_start": 89,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251143.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000542263.5",
"protein_id": "ENSP00000442468.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000542263.5",
"protein_id": "ENSP00000442468.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-204+231C>T",
"hgvs_p": null,
"transcript": "ENST00000544670.5",
"protein_id": "ENSP00000456425.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "n.89C>T",
"hgvs_p": null,
"transcript": "ENST00000539322.5",
"protein_id": "ENSP00000438852.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000539322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "NM_020314.7",
"protein_id": "NP_064710.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": null,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417362.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020314.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000417362.7",
"protein_id": "ENSP00000395973.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": null,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020314.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417362.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000513947.8",
"protein_id": "ENSP00000458116.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513947.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000925646.1",
"protein_id": "ENSP00000595705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 989,
"cds_start": null,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000959641.1",
"protein_id": "ENSP00000629700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": null,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959641.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000959642.1",
"protein_id": "ENSP00000629701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000858380.1",
"protein_id": "ENSP00000528439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": null,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000858387.1",
"protein_id": "ENSP00000528446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": null,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858387.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "NM_001365293.2",
"protein_id": "NP_001352222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": null,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365293.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000858378.1",
"protein_id": "ENSP00000528437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": null,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000858385.1",
"protein_id": "ENSP00000528444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": null,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000858381.1",
"protein_id": "ENSP00000528440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 936,
"cds_start": null,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000858383.1",
"protein_id": "ENSP00000528442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 936,
"cds_start": null,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000925649.1",
"protein_id": "ENSP00000595708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000959638.1",
"protein_id": "ENSP00000629697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": null,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000858384.1",
"protein_id": "ENSP00000528443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": null,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000959639.1",
"protein_id": "ENSP00000629698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": null,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959639.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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],
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}