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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: 19-51994120-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51994120&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51994120,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001199324.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "NM_001199324.2",
"protein_id": "NP_001186253.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000598071.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "ENST00000598071.6",
"protein_id": "ENSP00000471041.1",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_001199324.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "ENST00000594083.5",
"protein_id": "ENSP00000471549.1",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "ENST00000618487.4",
"protein_id": "ENSP00000483676.1",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "n.*779G>T",
"hgvs_p": null,
"transcript": "ENST00000599177.5",
"protein_id": "ENSP00000470475.1",
"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": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "n.*779G>T",
"hgvs_p": null,
"transcript": "ENST00000599177.5",
"protein_id": "ENSP00000470475.1",
"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": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Ser335Ile",
"transcript": "NM_001321323.2",
"protein_id": "NP_001308252.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 747,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "NM_001321319.2",
"protein_id": "NP_001308248.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "NM_001321321.2",
"protein_id": "NP_001308250.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.977G>T",
"hgvs_p": "p.Ser326Ile",
"transcript": "NM_001321318.2",
"protein_id": "NP_001308247.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 738,
"cds_start": 977,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.977G>T",
"hgvs_p": "p.Ser326Ile",
"transcript": "NM_001321322.2",
"protein_id": "NP_001308251.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 738,
"cds_start": 977,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.971G>T",
"hgvs_p": "p.Ser324Ile",
"transcript": "NM_001321317.2",
"protein_id": "NP_001308246.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 736,
"cds_start": 971,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.971G>T",
"hgvs_p": "p.Ser324Ile",
"transcript": "ENST00000391795.7",
"protein_id": "ENSP00000375672.3",
"transcript_support_level": 2,
"aa_start": 324,
"aa_end": null,
"aa_length": 736,
"cds_start": 971,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.956G>T",
"hgvs_p": "p.Ser319Ile",
"transcript": "NM_001321320.2",
"protein_id": "NP_001308249.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 731,
"cds_start": 956,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.956G>T",
"hgvs_p": "p.Ser319Ile",
"transcript": "NM_198480.4",
"protein_id": "NP_940882.3",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 731,
"cds_start": 956,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.956G>T",
"hgvs_p": "p.Ser319Ile",
"transcript": "ENST00000376716.9",
"protein_id": "ENSP00000365906.4",
"transcript_support_level": 2,
"aa_start": 319,
"aa_end": null,
"aa_length": 731,
"cds_start": 956,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.956G>T",
"hgvs_p": "p.Ser319Ile",
"transcript": "ENST00000602063.5",
"protein_id": "ENSP00000473089.1",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 731,
"cds_start": 956,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "XM_047438644.1",
"protein_id": "XP_047294600.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "XM_047438645.1",
"protein_id": "XP_047294601.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 4508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "XM_047438646.1",
"protein_id": "XP_047294602.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile",
"transcript": "XM_047438647.1",
"protein_id": "XP_047294603.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 742,
"cds_start": 989,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.956G>T",
"hgvs_p": "p.Ser319Ile",
"transcript": "XM_017026648.3",
"protein_id": "XP_016882137.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 731,
"cds_start": 956,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Ser211Ile",
"transcript": "XM_047438648.1",
"protein_id": "XP_047294604.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 623,
"cds_start": 632,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 905,
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"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"dbsnp": "rs756614086",
"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": 0.09795832633972168,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.097,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199324.2",
"gene_symbol": "ZNF615",
"hgnc_id": 24740,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Ser330Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}