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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: 19-57473420-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57473420&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57473420,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001024596.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Ala401Thr",
"transcript": "NM_001144068.2",
"protein_id": "NP_001137540.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 448,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356584.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144068.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Ala401Thr",
"transcript": "ENST00000356584.8",
"protein_id": "ENSP00000348992.3",
"transcript_support_level": 2,
"aa_start": 401,
"aa_end": null,
"aa_length": 448,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144068.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356584.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Ala442Thr",
"transcript": "ENST00000343280.8",
"protein_id": "ENSP00000341165.4",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 489,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343280.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Ala330Thr",
"transcript": "ENST00000427512.6",
"protein_id": "ENSP00000395967.2",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 377,
"cds_start": 988,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427512.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268163",
"gene_hgnc_id": null,
"hgvs_c": "c.199+2240G>A",
"hgvs_p": null,
"transcript": "ENST00000596831.1",
"protein_id": "ENSP00000470969.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596831.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Ala442Thr",
"transcript": "NM_001024596.3",
"protein_id": "NP_001019767.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 489,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024596.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_001439216.1",
"protein_id": "NP_001426145.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 435,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439216.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Ala387Thr",
"transcript": "NM_001439217.1",
"protein_id": "NP_001426146.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 434,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439217.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Ala370Thr",
"transcript": "ENST00000610548.2",
"protein_id": "ENSP00000477730.1",
"transcript_support_level": 5,
"aa_start": 370,
"aa_end": null,
"aa_length": 417,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610548.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "NM_001439218.1",
"protein_id": "NP_001426147.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 393,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439218.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Ala330Thr",
"transcript": "NM_001330613.2",
"protein_id": "NP_001317542.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 377,
"cds_start": 988,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330613.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Ala330Thr",
"transcript": "NM_001439219.1",
"protein_id": "NP_001426148.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 377,
"cds_start": 988,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439219.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Ala330Thr",
"transcript": "NM_001439220.1",
"protein_id": "NP_001426149.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 377,
"cds_start": 988,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.*945G>A",
"hgvs_p": null,
"transcript": "ENST00000425074.3",
"protein_id": "ENSP00000415214.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": null,
"cds_end": null,
"cds_length": 129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425074.3"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.72+3214G>A",
"hgvs_p": null,
"transcript": "ENST00000600175.5",
"protein_id": "ENSP00000471079.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 38,
"cds_start": null,
"cds_end": null,
"cds_length": 117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600175.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF772",
"gene_hgnc_id": 33106,
"hgvs_c": "c.33+3857G>A",
"hgvs_p": null,
"transcript": "ENST00000601768.1",
"protein_id": "ENSP00000471647.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 25,
"cds_start": null,
"cds_end": null,
"cds_length": 78,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268163",
"gene_hgnc_id": null,
"hgvs_c": "n.299+3214G>A",
"hgvs_p": null,
"transcript": "ENST00000415705.3",
"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": "pseudogene",
"feature": "ENST00000415705.3"
}
],
"gene_symbol": "ZNF772",
"gene_hgnc_id": 33106,
"dbsnp": null,
"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": 0.11744073033332825,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.34,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.501,
"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_001024596.3",
"gene_symbol": "ZNF772",
"hgnc_id": 33106,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Ala442Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000596831.1",
"gene_symbol": "ENSG00000268163",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.199+2240G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}