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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: 8-17274932-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17274932&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17274932,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000324849.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Ile206Phe",
"transcript": "NM_152415.3",
"protein_id": "NP_689628.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 397,
"cds_start": 616,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "ENST00000324849.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Ile206Phe",
"transcript": "ENST00000324849.9",
"protein_id": "ENSP00000318629.4",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 397,
"cds_start": 616,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "NM_152415.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.541A>T",
"hgvs_p": "p.Ile181Phe",
"transcript": "ENST00000521829.5",
"protein_id": "ENSP00000429680.1",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 372,
"cds_start": 541,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Ile206Phe",
"transcript": "NM_001363173.2",
"protein_id": "NP_001350102.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 397,
"cds_start": 616,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Ile206Phe",
"transcript": "NM_001363167.1",
"protein_id": "NP_001350096.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 391,
"cds_start": 616,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.541A>T",
"hgvs_p": "p.Ile181Phe",
"transcript": "NM_001145152.2",
"protein_id": "NP_001138624.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 372,
"cds_start": 541,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001363168.1",
"protein_id": "NP_001350097.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 307,
"cds_start": 346,
"cds_end": null,
"cds_length": 924,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001363169.1",
"protein_id": "NP_001350098.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 307,
"cds_start": 346,
"cds_end": null,
"cds_length": 924,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001363170.1",
"protein_id": "NP_001350099.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 301,
"cds_start": 346,
"cds_end": null,
"cds_length": 906,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001363171.1",
"protein_id": "NP_001350100.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 301,
"cds_start": 346,
"cds_end": null,
"cds_length": 906,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001363172.2",
"protein_id": "NP_001350101.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 301,
"cds_start": 346,
"cds_end": null,
"cds_length": 906,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Ile206Phe",
"transcript": "XM_017013021.3",
"protein_id": "XP_016868510.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 397,
"cds_start": 616,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Ile206Phe",
"transcript": "XM_047421354.1",
"protein_id": "XP_047277310.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 391,
"cds_start": 616,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.541A>T",
"hgvs_p": "p.Ile181Phe",
"transcript": "XM_047421355.1",
"protein_id": "XP_047277311.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 366,
"cds_start": 541,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.*86A>T",
"hgvs_p": null,
"transcript": "ENST00000425020.6",
"protein_id": "ENSP00000412824.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.616A>T",
"hgvs_p": null,
"transcript": "ENST00000520140.5",
"protein_id": "ENSP00000428823.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.903A>T",
"hgvs_p": null,
"transcript": "XR_007060695.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.903A>T",
"hgvs_p": null,
"transcript": "XR_007060696.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 6395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.903A>T",
"hgvs_p": null,
"transcript": "XR_007060697.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.903A>T",
"hgvs_p": null,
"transcript": "XR_007060698.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2208,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.903A>T",
"hgvs_p": null,
"transcript": "XR_007060699.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.903A>T",
"hgvs_p": null,
"transcript": "XR_007060700.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.*86A>T",
"hgvs_p": null,
"transcript": "ENST00000425020.6",
"protein_id": "ENSP00000412824.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"dbsnp": "rs17502618",
"frequency_reference_population": 0.010295547,
"hom_count_reference_population": 114,
"allele_count_reference_population": 16618,
"gnomad_exomes_af": 0.0105416,
"gnomad_genomes_af": 0.00793307,
"gnomad_exomes_ac": 15410,
"gnomad_genomes_ac": 1208,
"gnomad_exomes_homalt": 106,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007096379995346069,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.1049,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.095,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000324849.9",
"gene_symbol": "VPS37A",
"hgnc_id": 24928,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Ile206Phe"
}
],
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 53,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Hereditary spastic paraplegia 53|Hereditary spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}