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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: 8-144807198-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144807198&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144807198,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_213605.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.282G>C",
"hgvs_p": "p.Arg94Ser",
"transcript": "NM_213605.3",
"protein_id": "NP_998770.2",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 492,
"cds_start": 282,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": "ENST00000359971.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213605.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.282G>C",
"hgvs_p": "p.Arg94Ser",
"transcript": "ENST00000359971.4",
"protein_id": "ENSP00000353058.3",
"transcript_support_level": 4,
"aa_start": 94,
"aa_end": null,
"aa_length": 492,
"cds_start": 282,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": "NM_213605.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359971.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.180G>C",
"hgvs_p": "p.Arg60Ser",
"transcript": "ENST00000529429.5",
"protein_id": "ENSP00000432025.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 458,
"cds_start": 180,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529429.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.275-2908G>C",
"hgvs_p": null,
"transcript": "ENST00000525105.5",
"protein_id": "ENSP00000433299.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525105.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.282G>C",
"hgvs_p": "p.Arg94Ser",
"transcript": "NM_001384904.1",
"protein_id": "NP_001371833.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 492,
"cds_start": 282,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384904.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.282G>C",
"hgvs_p": "p.Arg94Ser",
"transcript": "NM_001384905.1",
"protein_id": "NP_001371834.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 492,
"cds_start": 282,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384905.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.282G>C",
"hgvs_p": "p.Arg94Ser",
"transcript": "ENST00000903326.1",
"protein_id": "ENSP00000573385.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 492,
"cds_start": 282,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903326.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.282G>C",
"hgvs_p": "p.Arg94Ser",
"transcript": "ENST00000903327.1",
"protein_id": "ENSP00000573386.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 492,
"cds_start": 282,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903327.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.261G>C",
"hgvs_p": "p.Arg87Ser",
"transcript": "NM_001317936.2",
"protein_id": "NP_001304865.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 485,
"cds_start": 261,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317936.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.261G>C",
"hgvs_p": "p.Arg87Ser",
"transcript": "ENST00000528012.5",
"protein_id": "ENSP00000435791.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 129,
"cds_start": 261,
"cds_end": null,
"cds_length": 390,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528012.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.216G>C",
"hgvs_p": "p.Arg72Ser",
"transcript": "XM_011517017.4",
"protein_id": "XP_011515319.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 470,
"cds_start": 216,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517017.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.-1G>C",
"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": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013384.3"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.275-2908G>C",
"hgvs_p": null,
"transcript": "NM_001384907.1",
"protein_id": "NP_001371836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384907.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.275-2908G>C",
"hgvs_p": null,
"transcript": "NM_001384908.1",
"protein_id": "NP_001371837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384908.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.254-2908G>C",
"hgvs_p": null,
"transcript": "NM_001384906.1",
"protein_id": "NP_001371835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384906.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "c.275-2908G>C",
"hgvs_p": null,
"transcript": "XM_047421745.1",
"protein_id": "XP_047277701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3228,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.1412G>C",
"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": 3191,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.282G>C",
"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": 2536,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.352G>C",
"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": 2507,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.237-2908G>C",
"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": 720,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"hgvs_c": "n.218-2908G>C",
"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": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134285.2"
}
],
"gene_symbol": "ZNF517",
"gene_hgnc_id": 27984,
"dbsnp": "rs1174272332",
"frequency_reference_population": 0.0000043788586,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000437886,
"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": 0.04895225167274475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.1777,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.027,
"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_213605.3",
"gene_symbol": "ZNF517",
"hgnc_id": 27984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.282G>C",
"hgvs_p": "p.Arg94Ser"
}
],
"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
}