← 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: 4-73077438-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73077438&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73077438,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_032217.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7504C>T",
"hgvs_p": "p.Arg2502*",
"transcript": "NM_032217.5",
"protein_id": "NP_115593.3",
"transcript_support_level": null,
"aa_start": 2502,
"aa_end": null,
"aa_length": 2603,
"cds_start": 7504,
"cds_end": null,
"cds_length": 7812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358602.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032217.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7504C>T",
"hgvs_p": "p.Arg2502*",
"transcript": "ENST00000358602.9",
"protein_id": "ENSP00000351416.4",
"transcript_support_level": 5,
"aa_start": 2502,
"aa_end": null,
"aa_length": 2603,
"cds_start": 7504,
"cds_end": null,
"cds_length": 7812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032217.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358602.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7165C>T",
"hgvs_p": "p.Arg2389*",
"transcript": "ENST00000509867.6",
"protein_id": "ENSP00000427151.2",
"transcript_support_level": 1,
"aa_start": 2389,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7165,
"cds_end": null,
"cds_length": 7473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509867.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7153C>T",
"hgvs_p": "p.Arg2385*",
"transcript": "ENST00000558247.5",
"protein_id": "ENSP00000453434.1",
"transcript_support_level": 1,
"aa_start": 2385,
"aa_end": null,
"aa_length": 2486,
"cds_start": 7153,
"cds_end": null,
"cds_length": 7461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558247.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7501C>T",
"hgvs_p": "p.Arg2501*",
"transcript": "NM_015574.2",
"protein_id": "NP_056389.1",
"transcript_support_level": null,
"aa_start": 2501,
"aa_end": null,
"aa_length": 2602,
"cds_start": 7501,
"cds_end": null,
"cds_length": 7809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015574.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7423C>T",
"hgvs_p": "p.Arg2475*",
"transcript": "ENST00000914560.1",
"protein_id": "ENSP00000584619.1",
"transcript_support_level": null,
"aa_start": 2475,
"aa_end": null,
"aa_length": 2576,
"cds_start": 7423,
"cds_end": null,
"cds_length": 7731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914560.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7306C>T",
"hgvs_p": "p.Arg2436*",
"transcript": "ENST00000914561.1",
"protein_id": "ENSP00000584620.1",
"transcript_support_level": null,
"aa_start": 2436,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7306,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914561.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7165C>T",
"hgvs_p": "p.Arg2389*",
"transcript": "NM_001286771.3",
"protein_id": "NP_001273700.1",
"transcript_support_level": null,
"aa_start": 2389,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7165,
"cds_end": null,
"cds_length": 7473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286771.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7162C>T",
"hgvs_p": "p.Arg2388*",
"transcript": "ENST00000914562.1",
"protein_id": "ENSP00000584621.1",
"transcript_support_level": null,
"aa_start": 2388,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7162,
"cds_end": null,
"cds_length": 7470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914562.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6751C>T",
"hgvs_p": "p.Arg2251*",
"transcript": "NM_198889.3",
"protein_id": "NP_942592.1",
"transcript_support_level": null,
"aa_start": 2251,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6751,
"cds_end": null,
"cds_length": 7059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198889.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6751C>T",
"hgvs_p": "p.Arg2251*",
"transcript": "ENST00000330838.10",
"protein_id": "ENSP00000332265.6",
"transcript_support_level": 2,
"aa_start": 2251,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6751,
"cds_end": null,
"cds_length": 7059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330838.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6748C>T",
"hgvs_p": "p.Arg2250*",
"transcript": "ENST00000914559.1",
"protein_id": "ENSP00000584618.1",
"transcript_support_level": null,
"aa_start": 2250,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6748,
"cds_end": null,
"cds_length": 7056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914559.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7306C>T",
"hgvs_p": "p.Arg2436*",
"transcript": "XM_047450038.1",
"protein_id": "XP_047305994.1",
"transcript_support_level": null,
"aa_start": 2436,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7306,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450038.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7162C>T",
"hgvs_p": "p.Arg2388*",
"transcript": "XM_017008011.2",
"protein_id": "XP_016863500.1",
"transcript_support_level": null,
"aa_start": 2388,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7162,
"cds_end": null,
"cds_length": 7470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008011.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7069C>T",
"hgvs_p": "p.Arg2357*",
"transcript": "XM_047450039.1",
"protein_id": "XP_047305995.1",
"transcript_support_level": null,
"aa_start": 2357,
"aa_end": null,
"aa_length": 2458,
"cds_start": 7069,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450039.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6841C>T",
"hgvs_p": "p.Arg2281*",
"transcript": "XM_047450040.1",
"protein_id": "XP_047305996.1",
"transcript_support_level": null,
"aa_start": 2281,
"aa_end": null,
"aa_length": 2382,
"cds_start": 6841,
"cds_end": null,
"cds_length": 7149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450040.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6838C>T",
"hgvs_p": "p.Arg2280*",
"transcript": "XM_047450041.1",
"protein_id": "XP_047305997.1",
"transcript_support_level": null,
"aa_start": 2280,
"aa_end": null,
"aa_length": 2381,
"cds_start": 6838,
"cds_end": null,
"cds_length": 7146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450041.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6748C>T",
"hgvs_p": "p.Arg2250*",
"transcript": "XM_005265671.5",
"protein_id": "XP_005265728.1",
"transcript_support_level": null,
"aa_start": 2250,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6748,
"cds_end": null,
"cds_length": 7056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265671.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6412C>T",
"hgvs_p": "p.Arg2138*",
"transcript": "XM_017008012.2",
"protein_id": "XP_016863501.1",
"transcript_support_level": null,
"aa_start": 2138,
"aa_end": null,
"aa_length": 2239,
"cds_start": 6412,
"cds_end": null,
"cds_length": 6720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008012.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6409C>T",
"hgvs_p": "p.Arg2137*",
"transcript": "XM_017008013.2",
"protein_id": "XP_016863502.1",
"transcript_support_level": null,
"aa_start": 2137,
"aa_end": null,
"aa_length": 2238,
"cds_start": 6409,
"cds_end": null,
"cds_length": 6717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008013.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "n.435C>T",
"hgvs_p": null,
"transcript": "ENST00000510127.1",
"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": "pseudogene",
"feature": "ENST00000510127.1"
}
],
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"dbsnp": "rs1953365097",
"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": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.736,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_032217.5",
"gene_symbol": "ANKRD17",
"hgnc_id": 23575,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7504C>T",
"hgvs_p": "p.Arg2502*"
}
],
"clinvar_disease": "Chopra-Amiel-Gordon syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Chopra-Amiel-Gordon syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}