← Back to variant description
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: 8-144804155-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144804155&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144804155,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_213605.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "NM_213605.3",
"protein_id": "NP_998770.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 492,
"cds_start": 191,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359971.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213605.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "ENST00000359971.4",
"protein_id": "ENSP00000353058.3",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 492,
"cds_start": 191,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_213605.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359971.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Ser30Tyr",
"transcript": "ENST00000529429.5",
"protein_id": "ENSP00000432025.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 458,
"cds_start": 89,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529429.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "ENST00000525105.5",
"protein_id": "ENSP00000433299.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 142,
"cds_start": 191,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525105.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "NM_001384904.1",
"protein_id": "NP_001371833.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 492,
"cds_start": 191,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384904.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "NM_001384905.1",
"protein_id": "NP_001371834.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 492,
"cds_start": 191,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384905.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "ENST00000903326.1",
"protein_id": "ENSP00000573385.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 492,
"cds_start": 191,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903326.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "ENST00000903327.1",
"protein_id": "ENSP00000573386.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 492,
"cds_start": 191,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903327.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.170C>A",
"hgvs_p": "p.Ser57Tyr",
"transcript": "NM_001317936.2",
"protein_id": "NP_001304865.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 485,
"cds_start": 170,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317936.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "NM_001384907.1",
"protein_id": "NP_001371836.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 142,
"cds_start": 191,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384907.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "NM_001384908.1",
"protein_id": "NP_001371837.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 142,
"cds_start": 191,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384908.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.170C>A",
"hgvs_p": "p.Ser57Tyr",
"transcript": "NM_001384906.1",
"protein_id": "NP_001371835.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 135,
"cds_start": 170,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384906.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.170C>A",
"hgvs_p": "p.Ser57Tyr",
"transcript": "ENST00000528012.5",
"protein_id": "ENSP00000435791.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 129,
"cds_start": 170,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528012.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.125C>A",
"hgvs_p": "p.Ser42Tyr",
"transcript": "XM_011517017.4",
"protein_id": "XP_011515319.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 470,
"cds_start": 125,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517017.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr",
"transcript": "XM_047421745.1",
"protein_id": "XP_047277701.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 142,
"cds_start": 191,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.153C>A",
"hgvs_p": null,
"transcript": "ENST00000526178.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000526178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.1321C>A",
"hgvs_p": null,
"transcript": "ENST00000530879.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.191C>A",
"hgvs_p": null,
"transcript": "ENST00000533965.5",
"protein_id": "ENSP00000435166.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000533965.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.261C>A",
"hgvs_p": null,
"transcript": "NR_134284.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_134284.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.134C>A",
"hgvs_p": null,
"transcript": "NR_134285.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_134285.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.-319C>A",
"hgvs_p": null,
"transcript": "XM_017013384.3",
"protein_id": "XP_016868873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": null,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013384.3"
}
],
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"dbsnp": "rs138557430",
"frequency_reference_population": 0.000320935,
"hom_count_reference_population": 1,
"allele_count_reference_population": 518,
"gnomad_exomes_af": 0.000333835,
"gnomad_genomes_af": 0.000197065,
"gnomad_exomes_ac": 488,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02379325032234192,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.3069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.044,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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_213605.3",
"gene_symbol": "ZNF517",
"hgnc_id": 27984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ser64Tyr"
}
],
"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
}