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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: 16-19616152-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19616152&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19616152,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_020314.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "NM_020314.7",
"protein_id": "NP_064710.5",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 963,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000417362.7",
"protein_id": "ENSP00000395973.3",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 963,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1329A>C",
"hgvs_p": "p.Leu443Leu",
"transcript": "ENST00000251143.9",
"protein_id": "ENSP00000251143.6",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1329,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.309A>C",
"hgvs_p": "p.Leu103Leu",
"transcript": "ENST00000543152.5",
"protein_id": "ENSP00000457973.1",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 712,
"cds_start": 309,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543152.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000513947.8",
"protein_id": "ENSP00000458116.3",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 451,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000925646.1",
"protein_id": "ENSP00000595705.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 989,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1014A>C",
"hgvs_p": "p.Leu338Leu",
"transcript": "ENST00000959641.1",
"protein_id": "ENSP00000629700.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 947,
"cds_start": 1014,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000959642.1",
"protein_id": "ENSP00000629701.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 945,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1002A>C",
"hgvs_p": "p.Leu334Leu",
"transcript": "ENST00000858380.1",
"protein_id": "ENSP00000528439.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 943,
"cds_start": 1002,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000858387.1",
"protein_id": "ENSP00000528446.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 942,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "NM_001365293.2",
"protein_id": "NP_001352222.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 937,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000858378.1",
"protein_id": "ENSP00000528437.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 937,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000858381.1",
"protein_id": "ENSP00000528440.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 936,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000858383.1",
"protein_id": "ENSP00000528442.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 936,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000925649.1",
"protein_id": "ENSP00000595708.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 932,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000959638.1",
"protein_id": "ENSP00000629697.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 930,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000858384.1",
"protein_id": "ENSP00000528443.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 922,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1077A>C",
"hgvs_p": "p.Leu359Leu",
"transcript": "ENST00000959639.1",
"protein_id": "ENSP00000629698.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 919,
"cds_start": 1077,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000858382.1",
"protein_id": "ENSP00000528441.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 914,
"cds_start": 1062,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858382.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.831A>C",
"hgvs_p": "p.Leu277Leu",
"transcript": "ENST00000959637.1",
"protein_id": "ENSP00000629696.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 860,
"cds_start": 831,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959637.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1062A>C",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000959640.1",
"protein_id": "ENSP00000629699.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 852,
"cds_start": 1062,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959640.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.174A>C",
"hgvs_p": "p.Leu58Leu",
"transcript": "NM_001365295.2",
"protein_id": "NP_001352224.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 667,
"cds_start": 174,
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{
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"BP7",
"BS1",
"BS2"
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"clinvar_classification": "Likely benign",
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"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}