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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: 19-17282085-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17282085&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17282085,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000404085.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Ala31Thr",
"transcript": "NM_152363.6",
"protein_id": "NP_689576.6",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 615,
"cds_start": 91,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "ENST00000404085.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Ala31Thr",
"transcript": "ENST00000404085.7",
"protein_id": "ENSP00000384008.3",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 615,
"cds_start": 91,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "NM_152363.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000394458.7",
"protein_id": "ENSP00000377971.4",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 669,
"cds_start": 253,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269307",
"gene_hgnc_id": null,
"hgvs_c": "n.*424G>A",
"hgvs_p": null,
"transcript": "ENST00000596542.1",
"protein_id": "ENSP00000469159.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269307",
"gene_hgnc_id": null,
"hgvs_c": "n.*424G>A",
"hgvs_p": null,
"transcript": "ENST00000596542.1",
"protein_id": "ENSP00000469159.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Ala31Thr",
"transcript": "NM_001278444.2",
"protein_id": "NP_001265373.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 597,
"cds_start": 91,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Ala31Thr",
"transcript": "ENST00000598347.2",
"protein_id": "ENSP00000470895.2",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 597,
"cds_start": 91,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Ala31Thr",
"transcript": "ENST00000594072.6",
"protein_id": "ENSP00000468845.4",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 589,
"cds_start": 91,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Ala20Thr",
"transcript": "NM_001278443.2",
"protein_id": "NP_001265372.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 578,
"cds_start": 58,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Ala20Thr",
"transcript": "ENST00000652132.1",
"protein_id": "ENSP00000498416.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 578,
"cds_start": 58,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"transcript": "NM_001278445.2",
"protein_id": "NP_001265374.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 575,
"cds_start": 49,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "n.91G>A",
"hgvs_p": null,
"transcript": "ENST00000404261.9",
"protein_id": "ENSP00000384753.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "n.102G>A",
"hgvs_p": null,
"transcript": "ENST00000596626.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "n.37G>A",
"hgvs_p": null,
"transcript": "ENST00000596834.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "n.423G>A",
"hgvs_p": null,
"transcript": "ENST00000601401.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "n.308G>A",
"hgvs_p": null,
"transcript": "ENST00000651416.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "n.111G>A",
"hgvs_p": null,
"transcript": "NR_103530.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USHBP1",
"gene_hgnc_id": 24058,
"hgvs_c": "c.-201+451C>T",
"hgvs_p": null,
"transcript": "ENST00000598309.1",
"protein_id": "ENSP00000471680.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 98,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"hgvs_c": "n.-9G>A",
"hgvs_p": null,
"transcript": "ENST00000596099.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKLE1",
"gene_hgnc_id": 26812,
"dbsnp": "rs8100241",
"frequency_reference_population": 0.49956104,
"hom_count_reference_population": 193706,
"allele_count_reference_population": 769322,
"gnomad_exomes_af": 0.502698,
"gnomad_genomes_af": 0.470939,
"gnomad_exomes_ac": 697696,
"gnomad_genomes_ac": 71626,
"gnomad_exomes_homalt": 176611,
"gnomad_genomes_homalt": 17095,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0005950331687927246,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4587,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.492,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000404085.7",
"gene_symbol": "ANKLE1",
"hgnc_id": 26812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Ala31Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000596542.1",
"gene_symbol": "ENSG00000269307",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*424G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000598309.1",
"gene_symbol": "USHBP1",
"hgnc_id": 24058,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-201+451C>T",
"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
}