← Back to variant description
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: 16-46663131-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=46663131&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 46663131,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018206.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Ile560Thr",
"transcript": "NM_018206.6",
"protein_id": "NP_060676.2",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 796,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299138.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018206.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Ile560Thr",
"transcript": "ENST00000299138.12",
"protein_id": "ENSP00000299138.7",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 796,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018206.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299138.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "n.*2349T>C",
"hgvs_p": null,
"transcript": "ENST00000568784.6",
"protein_id": "ENSP00000456274.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000568784.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "n.*2349T>C",
"hgvs_p": null,
"transcript": "ENST00000568784.6",
"protein_id": "ENSP00000456274.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000568784.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Ile567Thr",
"transcript": "ENST00000904863.1",
"protein_id": "ENSP00000574922.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 803,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904863.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1676T>C",
"hgvs_p": "p.Ile559Thr",
"transcript": "ENST00000921303.1",
"protein_id": "ENSP00000591362.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 795,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921303.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Ile556Thr",
"transcript": "ENST00000904865.1",
"protein_id": "ENSP00000574924.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 792,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904865.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Ile560Thr",
"transcript": "ENST00000940929.1",
"protein_id": "ENSP00000610988.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 792,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940929.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1652T>C",
"hgvs_p": "p.Ile551Thr",
"transcript": "ENST00000904859.1",
"protein_id": "ENSP00000574918.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 787,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904859.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1631T>C",
"hgvs_p": "p.Ile544Thr",
"transcript": "ENST00000921304.1",
"protein_id": "ENSP00000591363.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 780,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921304.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Ile560Thr",
"transcript": "ENST00000904861.1",
"protein_id": "ENSP00000574920.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 776,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904861.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1556T>C",
"hgvs_p": "p.Ile519Thr",
"transcript": "ENST00000904858.1",
"protein_id": "ENSP00000574917.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 755,
"cds_start": 1556,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904858.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1541T>C",
"hgvs_p": "p.Ile514Thr",
"transcript": "ENST00000904860.1",
"protein_id": "ENSP00000574919.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 750,
"cds_start": 1541,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904860.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Ile560Thr",
"transcript": "ENST00000904864.1",
"protein_id": "ENSP00000574923.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 748,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904864.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1433T>C",
"hgvs_p": "p.Ile478Thr",
"transcript": "ENST00000904862.1",
"protein_id": "ENSP00000574921.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 714,
"cds_start": 1433,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904862.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1271T>C",
"hgvs_p": "p.Ile424Thr",
"transcript": "ENST00000940931.1",
"protein_id": "ENSP00000610990.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 660,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940931.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1592T>C",
"hgvs_p": "p.Ile531Thr",
"transcript": "XM_011523227.4",
"protein_id": "XP_011521529.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 767,
"cds_start": 1592,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523227.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1478T>C",
"hgvs_p": "p.Ile493Thr",
"transcript": "XM_005256045.4",
"protein_id": "XP_005256102.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 729,
"cds_start": 1478,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256045.4"
},
{
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.1648-649T>C",
"hgvs_p": null,
"transcript": "ENST00000940930.1",
"protein_id": "ENSP00000610989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": null,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940930.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "c.103-649T>C",
"hgvs_p": null,
"transcript": "ENST00000921305.1",
"protein_id": "ENSP00000591364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921305.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "n.317T>C",
"hgvs_p": null,
"transcript": "ENST00000562420.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000562420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "n.*1742T>C",
"hgvs_p": null,
"transcript": "ENST00000647959.1",
"protein_id": "ENSP00000497702.1",
"transcript_support_level": null,
"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": "ENST00000647959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"hgvs_c": "n.*1742T>C",
"hgvs_p": null,
"transcript": "ENST00000647959.1",
"protein_id": "ENSP00000497702.1",
"transcript_support_level": null,
"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": "ENST00000647959.1"
}
],
"gene_symbol": "VPS35",
"gene_hgnc_id": 13487,
"dbsnp": "rs760128592",
"frequency_reference_population": 0.000004956439,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000410445,
"gnomad_genomes_af": 0.0000131377,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9247729778289795,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.736,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9884,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.096,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018206.6",
"gene_symbol": "VPS35",
"hgnc_id": 13487,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Ile560Thr"
}
],
"clinvar_disease": "Parkinson disease 17",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Parkinson disease 17",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}