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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: 8-144881712-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144881712&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144881712,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001109689.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001109689.4",
"protein_id": "NP_001103159.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": "ENST00000417550.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "ENST00000417550.7",
"protein_id": "ENSP00000393442.2",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": "NM_001109689.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000292579.11",
"protein_id": "ENSP00000292579.7",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "NM_001363098.2",
"protein_id": "NP_001350027.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 6414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "NM_001363099.2",
"protein_id": "NP_001350028.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "NM_021061.5",
"protein_id": "NP_066405.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 6352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001363100.2",
"protein_id": "NP_001350029.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 6711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001363101.2",
"protein_id": "NP_001350030.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 6399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001363102.2",
"protein_id": "NP_001350031.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu",
"transcript": "NM_001363103.2",
"protein_id": "NP_001350032.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 555,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1423G>T",
"hgvs_p": "p.Val475Leu",
"transcript": "NM_001363104.2",
"protein_id": "NP_001350033.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 539,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1408G>T",
"hgvs_p": "p.Val470Leu",
"transcript": "NM_001363105.2",
"protein_id": "NP_001350034.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 534,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 6648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1408G>T",
"hgvs_p": "p.Val470Leu",
"transcript": "NM_001363106.2",
"protein_id": "NP_001350035.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 534,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 6274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1408G>T",
"hgvs_p": "p.Val470Leu",
"transcript": "NM_001363107.2",
"protein_id": "NP_001350036.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 534,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "XM_047422064.1",
"protein_id": "XP_047278020.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 560,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 6442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.1408G>T",
"hgvs_p": "p.Val470Leu",
"transcript": "XM_047422065.1",
"protein_id": "XP_047278021.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 534,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "n.284-1254G>T",
"hgvs_p": null,
"transcript": "ENST00000528258.5",
"protein_id": "ENSP00000431551.1",
"transcript_support_level": 5,
"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": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "n.347-1254G>T",
"hgvs_p": null,
"transcript": "ENST00000529780.5",
"protein_id": "ENSP00000432611.1",
"transcript_support_level": 3,
"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": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "n.362-1254G>T",
"hgvs_p": null,
"transcript": "ENST00000533543.5",
"protein_id": "ENSP00000433920.1",
"transcript_support_level": 4,
"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": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"dbsnp": "rs370634407",
"frequency_reference_population": 0.000004104658,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410466,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06535732746124268,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.7856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.529,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001109689.4",
"gene_symbol": "ZNF250",
"hgnc_id": 13044,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1471G>T",
"hgvs_p": "p.Val491Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}