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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: 10-97578255-CGC-TCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97578255&ref=CGC&alt=TCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANKRD2",
"hgnc_id": 495,
"hgvs_c": "c.544_546delCGCinsTCT",
"hgvs_p": "p.Arg182Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001291218.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 333,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": 215,
"cds_end": null,
"cds_length": 1002,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346793.2",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.205_207delCGCinsTCT",
"hgvs_p": "p.Arg69Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370655.6",
"protein_coding": true,
"protein_id": "NP_001333722.1",
"strand": true,
"transcript": "NM_001346793.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 333,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": 215,
"cds_end": null,
"cds_length": 1002,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370655.6",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.205_207delCGCinsTCT",
"hgvs_p": "p.Arg69Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001346793.2",
"protein_coding": true,
"protein_id": "ENSP00000359689.1",
"strand": true,
"transcript": "ENST00000370655.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1083,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000307518.9",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.286_288delCGCinsTCT",
"hgvs_p": "p.Arg96Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306163.5",
"strand": true,
"transcript": "ENST00000307518.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 495,
"cds_end": null,
"cds_length": 984,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000298808.9",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.286_288delCGCinsTCT",
"hgvs_p": "p.Arg96Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298808.5",
"strand": true,
"transcript": "ENST00000298808.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 215,
"cds_end": null,
"cds_length": 903,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455090.1",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.205_207delCGCinsTCT",
"hgvs_p": "p.Arg69Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403114.1",
"strand": true,
"transcript": "ENST00000455090.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1341,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291218.2",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.544_546delCGCinsTCT",
"hgvs_p": "p.Arg182Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278147.1",
"strand": true,
"transcript": "NM_001291218.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1143,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960741.1",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.346_348delCGCinsTCT",
"hgvs_p": "p.Arg116Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630800.1",
"strand": true,
"transcript": "ENST00000960741.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 491,
"cds_end": null,
"cds_length": 1083,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020349.4",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.286_288delCGCinsTCT",
"hgvs_p": "p.Arg96Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065082.2",
"strand": true,
"transcript": "NM_020349.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1035,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960742.1",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.238_240delCGCinsTCT",
"hgvs_p": "p.Arg80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630801.1",
"strand": true,
"transcript": "ENST00000960742.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 209,
"cds_end": null,
"cds_length": 996,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909341.1",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.199_201delCGCinsTCT",
"hgvs_p": "p.Arg67Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579400.1",
"strand": true,
"transcript": "ENST00000909341.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": 491,
"cds_end": null,
"cds_length": 984,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001129981.3",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.286_288delCGCinsTCT",
"hgvs_p": "p.Arg96Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123453.1",
"strand": true,
"transcript": "NM_001129981.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 215,
"cds_end": null,
"cds_length": 903,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291219.3",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.205_207delCGCinsTCT",
"hgvs_p": "p.Arg69Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278148.2",
"strand": true,
"transcript": "NM_001291219.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1347,
"cdna_start": 491,
"cds_end": null,
"cds_length": 903,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960743.1",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.205_207delCGCinsTCT",
"hgvs_p": "p.Arg69Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630802.1",
"strand": true,
"transcript": "ENST00000960743.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": 114,
"cds_end": null,
"cds_length": 900,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960744.1",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.103_105delCGCinsTCT",
"hgvs_p": "p.Arg35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630803.1",
"strand": true,
"transcript": "ENST00000960744.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": 437,
"cds_end": null,
"cds_length": 804,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909340.1",
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"hgvs_c": "c.205_207delCGCinsTCT",
"hgvs_p": "p.Arg69Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579399.1",
"strand": true,
"transcript": "ENST00000909340.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 495,
"gene_symbol": "ANKRD2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.576,
"pos": 97578255,
"ref": "CGC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001291218.2"
}
]
}