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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: 2-27600694-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27600694&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27600694,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032434.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "NM_032434.4",
"protein_id": "NP_115810.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 567,
"cds_start": 461,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": "ENST00000355467.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032434.4"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "ENST00000355467.6",
"protein_id": "ENSP00000347648.3",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 567,
"cds_start": 461,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": "NM_032434.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355467.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.230G>T",
"hgvs_p": "p.Ser77Ile",
"transcript": "ENST00000556601.5",
"protein_id": "ENSP00000451572.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 490,
"cds_start": 230,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556601.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "ENST00000879762.1",
"protein_id": "ENSP00000549821.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 568,
"cds_start": 461,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879762.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.458G>T",
"hgvs_p": "p.Ser153Ile",
"transcript": "ENST00000379717.5",
"protein_id": "ENSP00000369040.1",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 566,
"cds_start": 458,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379717.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Ser126Ile",
"transcript": "ENST00000879763.1",
"protein_id": "ENSP00000549822.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 539,
"cds_start": 377,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879763.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Ser125Ile",
"transcript": "NM_001271286.2",
"protein_id": "NP_001258215.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 538,
"cds_start": 374,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271286.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Ser125Ile",
"transcript": "ENST00000416005.6",
"protein_id": "ENSP00000407038.2",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 538,
"cds_start": 374,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416005.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "ENST00000937484.1",
"protein_id": "ENSP00000607543.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 538,
"cds_start": 461,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 3306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937484.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.230G>T",
"hgvs_p": "p.Ser77Ile",
"transcript": "NM_001271287.2",
"protein_id": "NP_001258216.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 490,
"cds_start": 230,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271287.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.230G>T",
"hgvs_p": "p.Ser77Ile",
"transcript": "NM_001271288.2",
"protein_id": "NP_001258217.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 490,
"cds_start": 230,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271288.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.230G>T",
"hgvs_p": "p.Ser77Ile",
"transcript": "NM_001271318.2",
"protein_id": "NP_001258247.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 490,
"cds_start": 230,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271318.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.230G>T",
"hgvs_p": "p.Ser77Ile",
"transcript": "ENST00000413371.6",
"protein_id": "ENSP00000395660.2",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 490,
"cds_start": 230,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413371.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "ENST00000948674.1",
"protein_id": "ENSP00000618733.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 478,
"cds_start": 461,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948674.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Ser49Ile",
"transcript": "NM_001271289.2",
"protein_id": "NP_001258218.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 462,
"cds_start": 146,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271289.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "c.31-2446G>T",
"hgvs_p": null,
"transcript": "ENST00000937483.1",
"protein_id": "ENSP00000607542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937483.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"hgvs_c": "n.471G>T",
"hgvs_p": null,
"transcript": "ENST00000494548.1",
"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": 505,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259080",
"gene_hgnc_id": null,
"hgvs_c": "n.465+641G>T",
"hgvs_p": null,
"transcript": "ENST00000505973.1",
"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": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505973.1"
}
],
"gene_symbol": "ZNF512",
"gene_hgnc_id": 29380,
"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": 0.4078071117401123,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.345,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9551,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.972,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032434.4",
"gene_symbol": "ZNF512",
"hgnc_id": 29380,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000505973.1",
"gene_symbol": "ENSG00000259080",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.465+641G>T",
"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
}