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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: 18-58919044-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58919044&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58919044,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018181.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001375912.1",
"protein_id": "NP_001362841.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 6556,
"mane_select": "ENST00000591808.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375912.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000591808.6",
"protein_id": "ENSP00000468238.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 6556,
"mane_select": "NM_001375912.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591808.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000336078.8",
"protein_id": "ENSP00000338217.4",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 6696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336078.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000591083.5",
"protein_id": "ENSP00000468532.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 5324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591083.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000591230.5",
"protein_id": "ENSP00000465709.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591230.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001318726.2",
"protein_id": "NP_001305655.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 6290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318726.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001318727.2",
"protein_id": "NP_001305656.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 6251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318727.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001318728.2",
"protein_id": "NP_001305657.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 6274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318728.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001353525.2",
"protein_id": "NP_001340454.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353525.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001353526.2",
"protein_id": "NP_001340455.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353526.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001353527.2",
"protein_id": "NP_001340456.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 6239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353527.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001353528.2",
"protein_id": "NP_001340457.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 6105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353528.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_001353529.2",
"protein_id": "NP_001340458.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353529.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "NM_018181.6",
"protein_id": "NP_060651.2",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 6372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018181.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000589288.5",
"protein_id": "ENSP00000466007.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589288.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000929496.1",
"protein_id": "ENSP00000599555.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 6170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929496.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000929498.1",
"protein_id": "ENSP00000599557.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 6980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929498.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000929499.1",
"protein_id": "ENSP00000599558.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
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"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 6124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929499.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000929500.1",
"protein_id": "ENSP00000599559.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 5775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929500.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000929501.1",
"protein_id": "ENSP00000599560.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929501.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000929503.1",
"protein_id": "ENSP00000599562.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929503.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val",
"transcript": "ENST00000929504.1",
"protein_id": "ENSP00000599563.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1301,
"cds_start": 757,
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"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"dbsnp": "rs143556154",
"frequency_reference_population": 0.0011084785,
"hom_count_reference_population": 18,
"allele_count_reference_population": 1789,
"gnomad_exomes_af": 0.00110354,
"gnomad_genomes_af": 0.00115586,
"gnomad_exomes_ac": 1613,
"gnomad_genomes_ac": 176,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0032782256603240967,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0564,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.733,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018181.6",
"gene_symbol": "ZNF532",
"hgnc_id": 30940,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Leu253Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}