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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: 19-57473830-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57473830&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57473830,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001024596.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "NM_001144068.2",
"protein_id": "NP_001137540.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 448,
"cds_start": 791,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": "ENST00000356584.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144068.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "ENST00000356584.8",
"protein_id": "ENSP00000348992.3",
"transcript_support_level": 2,
"aa_start": 264,
"aa_end": null,
"aa_length": 448,
"cds_start": 791,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": "NM_001144068.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356584.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "ENST00000343280.8",
"protein_id": "ENSP00000341165.4",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 489,
"cds_start": 914,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343280.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "ENST00000427512.6",
"protein_id": "ENSP00000395967.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 377,
"cds_start": 578,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 5130,
"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+1830G>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": 664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596831.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "NM_001024596.3",
"protein_id": "NP_001019767.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 489,
"cds_start": 914,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 5415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024596.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.752G>A",
"hgvs_p": "p.Arg251His",
"transcript": "NM_001439216.1",
"protein_id": "NP_001426145.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 435,
"cds_start": 752,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439216.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.749G>A",
"hgvs_p": "p.Arg250His",
"transcript": "NM_001439217.1",
"protein_id": "NP_001426146.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 434,
"cds_start": 749,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439217.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.698G>A",
"hgvs_p": "p.Arg233His",
"transcript": "ENST00000610548.2",
"protein_id": "ENSP00000477730.1",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 417,
"cds_start": 698,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610548.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.626G>A",
"hgvs_p": "p.Arg209His",
"transcript": "NM_001439218.1",
"protein_id": "NP_001426147.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 393,
"cds_start": 626,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439218.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "NM_001330613.2",
"protein_id": "NP_001317542.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 377,
"cds_start": 578,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330613.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "NM_001439219.1",
"protein_id": "NP_001426148.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 377,
"cds_start": 578,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439219.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "NM_001439220.1",
"protein_id": "NP_001426149.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 377,
"cds_start": 578,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 5419,
"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.*535G>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": 1601,
"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+2804G>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": 737,
"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+3447G>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": 482,
"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+2804G>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": 652,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415705.3"
}
],
"gene_symbol": "ZNF772",
"gene_hgnc_id": 33106,
"dbsnp": "rs199665856",
"frequency_reference_population": 0.000076346776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 123,
"gnomad_exomes_af": 0.000081404,
"gnomad_genomes_af": 0.000026805,
"gnomad_exomes_ac": 119,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06034150719642639,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.5411,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.143,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001024596.3",
"gene_symbol": "ZNF772",
"hgnc_id": 33106,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000596831.1",
"gene_symbol": "ENSG00000268163",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.199+1830G>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
}