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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: 7-140673586-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140673586&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 140673586,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_052853.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "NM_052853.4",
"protein_id": "NP_443085.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 626,
"cds_start": 256,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000072869.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052853.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000072869.9",
"protein_id": "ENSP00000072869.4",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 626,
"cds_start": 256,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052853.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000072869.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000476491.5",
"protein_id": "ENSP00000420512.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 590,
"cds_start": 256,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476491.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000926717.1",
"protein_id": "ENSP00000596776.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 733,
"cds_start": 256,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926717.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000896694.1",
"protein_id": "ENSP00000566753.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 639,
"cds_start": 256,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896694.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000926715.1",
"protein_id": "ENSP00000596774.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 625,
"cds_start": 256,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926715.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000896697.1",
"protein_id": "ENSP00000566756.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 624,
"cds_start": 256,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896697.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000953390.1",
"protein_id": "ENSP00000623449.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 624,
"cds_start": 256,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953390.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000896699.1",
"protein_id": "ENSP00000566758.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 608,
"cds_start": 256,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896699.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000896692.1",
"protein_id": "ENSP00000566751.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 594,
"cds_start": 256,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896692.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000896698.1",
"protein_id": "ENSP00000566757.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 583,
"cds_start": 256,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896698.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000953389.1",
"protein_id": "ENSP00000623448.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 565,
"cds_start": 256,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953389.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000926714.1",
"protein_id": "ENSP00000596773.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 551,
"cds_start": 256,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926714.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000896693.1",
"protein_id": "ENSP00000566752.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 542,
"cds_start": 256,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896693.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000896695.1",
"protein_id": "ENSP00000566754.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 510,
"cds_start": 256,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896695.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000926716.1",
"protein_id": "ENSP00000596775.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 499,
"cds_start": 256,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926716.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "ENST00000896696.1",
"protein_id": "ENSP00000566755.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 481,
"cds_start": 256,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896696.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "XM_011516675.4",
"protein_id": "XP_011514977.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 594,
"cds_start": 256,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516675.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*",
"transcript": "XM_006716170.5",
"protein_id": "XP_006716233.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 542,
"cds_start": 256,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716170.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.-146+288G>A",
"hgvs_p": null,
"transcript": "ENST00000489552.1",
"protein_id": "ENSP00000418088.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489552.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"hgvs_c": "c.-234C>T",
"hgvs_p": null,
"transcript": "ENST00000483369.5",
"protein_id": "ENSP00000417367.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483369.5"
}
],
"gene_symbol": "ADCK2",
"gene_hgnc_id": 19039,
"dbsnp": "rs367917022",
"frequency_reference_population": 0.0000130753315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000130753,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23999999463558197,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.525,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052853.4",
"gene_symbol": "ADCK2",
"hgnc_id": 19039,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86*"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000489552.1",
"gene_symbol": "DENND2A",
"hgnc_id": 22212,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-146+288G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}