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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: 16-67165742-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67165742&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67165742,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000521374.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "NM_001374675.1",
"protein_id": "NP_001361604.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 492,
"cds_start": 256,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": "ENST00000521374.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "ENST00000521374.6",
"protein_id": "ENSP00000430947.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 492,
"cds_start": 256,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": "NM_001374675.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "ENST00000584272.5",
"protein_id": "ENSP00000463706.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 462,
"cds_start": 256,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1549,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.256A>G",
"hgvs_p": null,
"transcript": "ENST00000434833.6",
"protein_id": "ENSP00000403219.2",
"transcript_support_level": 1,
"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": 1568,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.256A>G",
"hgvs_p": null,
"transcript": "ENST00000521624.5",
"protein_id": "ENSP00000428161.1",
"transcript_support_level": 1,
"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": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265690",
"gene_hgnc_id": null,
"hgvs_c": "n.*785A>G",
"hgvs_p": null,
"transcript": "ENST00000580114.5",
"protein_id": "ENSP00000464271.1",
"transcript_support_level": 5,
"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": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265690",
"gene_hgnc_id": null,
"hgvs_c": "n.*785A>G",
"hgvs_p": null,
"transcript": "ENST00000580114.5",
"protein_id": "ENSP00000464271.1",
"transcript_support_level": 5,
"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": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "NM_001040667.3",
"protein_id": "NP_001035757.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 492,
"cds_start": 256,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "NM_001374674.1",
"protein_id": "NP_001361603.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 462,
"cds_start": 256,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "NM_001538.4",
"protein_id": "NP_001529.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 462,
"cds_start": 256,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "ENST00000517685.5",
"protein_id": "ENSP00000428978.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 415,
"cds_start": 256,
"cds_end": null,
"cds_length": 1249,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "c.130A>G",
"hgvs_p": "p.Ile44Val",
"transcript": "ENST00000517729.5",
"protein_id": "ENSP00000430299.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 184,
"cds_start": 130,
"cds_end": null,
"cds_length": 556,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 556,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.539A>G",
"hgvs_p": null,
"transcript": "ENST00000517867.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1855,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265690",
"gene_hgnc_id": null,
"hgvs_c": "n.*291A>G",
"hgvs_p": null,
"transcript": "ENST00000518753.5",
"protein_id": "ENSP00000476658.1",
"transcript_support_level": 5,
"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": 501,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.*3A>G",
"hgvs_p": null,
"transcript": "ENST00000521314.5",
"protein_id": "ENSP00000429580.1",
"transcript_support_level": 5,
"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": 1555,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.323A>G",
"hgvs_p": null,
"transcript": "ENST00000522023.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 636,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.256A>G",
"hgvs_p": null,
"transcript": "ENST00000522295.5",
"protein_id": "ENSP00000427832.1",
"transcript_support_level": 5,
"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": 1539,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.475A>G",
"hgvs_p": null,
"transcript": "ENST00000522870.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1599,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.755A>G",
"hgvs_p": null,
"transcript": "ENST00000523077.2",
"protein_id": null,
"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": 2289,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.256A>G",
"hgvs_p": null,
"transcript": "ENST00000523562.5",
"protein_id": "ENSP00000430631.1",
"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": 1839,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265690",
"gene_hgnc_id": null,
"hgvs_c": "n.*291A>G",
"hgvs_p": null,
"transcript": "ENST00000518753.5",
"protein_id": "ENSP00000476658.1",
"transcript_support_level": 5,
"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": 501,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.*3A>G",
"hgvs_p": null,
"transcript": "ENST00000521314.5",
"protein_id": "ENSP00000429580.1",
"transcript_support_level": 5,
"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": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265690",
"gene_hgnc_id": null,
"hgvs_c": "n.*1460A>G",
"hgvs_p": null,
"transcript": "ENST00000518227.1",
"protein_id": "ENSP00000476527.1",
"transcript_support_level": 1,
"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": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"hgvs_c": "n.-99A>G",
"hgvs_p": null,
"transcript": "ENST00000519224.5",
"protein_id": "ENSP00000430724.1",
"transcript_support_level": 5,
"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": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HSF4",
"gene_hgnc_id": 5227,
"dbsnp": "rs121909050",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3053467273712158,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.49,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.139,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.615,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP5,BP4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 1,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000521374.6",
"gene_symbol": "HSF4",
"hgnc_id": 5227,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val"
},
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000580114.5",
"gene_symbol": "ENSG00000265690",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*785A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Cataract 5 multiple types",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Cataract 5 multiple types",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}