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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: 8-144882674-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144882674&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF250",
"hgnc_id": 13044,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_021061.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 77,
"alphamissense_prediction": null,
"alphamissense_score": 0.0747,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.030647754669189453,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001109689.4",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000417550.7",
"protein_coding": true,
"protein_id": "NP_001103159.1",
"strand": false,
"transcript": "NM_001109689.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000417550.7",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001109689.4",
"protein_coding": true,
"protein_id": "ENSP00000393442.2",
"strand": false,
"transcript": "ENST00000417550.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000292579.11",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000292579.7",
"strand": false,
"transcript": "ENST00000292579.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1686,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940320.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610379.1",
"strand": false,
"transcript": "ENST00000940320.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6414,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363098.2",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350027.1",
"strand": false,
"transcript": "NM_001363098.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6726,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363099.2",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350028.1",
"strand": false,
"transcript": "NM_001363099.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6352,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_021061.5",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066405.1",
"strand": false,
"transcript": "NM_021061.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862363.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532421.1",
"strand": false,
"transcript": "ENST00000862363.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000862364.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532423.1",
"strand": false,
"transcript": "ENST00000862364.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862369.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532428.1",
"strand": false,
"transcript": "ENST00000862369.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940315.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610374.1",
"strand": false,
"transcript": "ENST00000940315.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940316.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610375.1",
"strand": false,
"transcript": "ENST00000940316.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1683,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956450.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626509.1",
"strand": false,
"transcript": "ENST00000956450.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6711,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363100.2",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350029.1",
"strand": false,
"transcript": "NM_001363100.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6399,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363101.2",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350030.1",
"strand": false,
"transcript": "NM_001363101.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6427,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001363102.2",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350031.1",
"strand": false,
"transcript": "NM_001363102.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6448,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363103.2",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350032.1",
"strand": false,
"transcript": "NM_001363103.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862366.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532425.1",
"strand": false,
"transcript": "ENST00000862366.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000862371.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532430.1",
"strand": false,
"transcript": "ENST00000862371.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000862373.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532431.1",
"strand": false,
"transcript": "ENST00000862373.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1668,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940321.1",
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs138243599",
"effect": "missense_variant",
"frequency_reference_population": 0.000047712052,
"gene_hgnc_id": 13044,
"gene_symbol": "ZNF250",
"gnomad_exomes_ac": 50,
"gnomad_exomes_af": 0.0000342067,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 27,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -4.037,
"pos": 144882674,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.058,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_021061.5"
}
]
}