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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: 10-60138981-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=60138981&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 60138981,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000280772.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2721C>G",
"hgvs_p": "p.Leu907Leu",
"transcript": "NM_020987.5",
"protein_id": "NP_066267.2",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 4377,
"cds_start": 2721,
"cds_end": null,
"cds_length": 13134,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 17019,
"mane_select": "ENST00000280772.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2721C>G",
"hgvs_p": "p.Leu907Leu",
"transcript": "ENST00000280772.7",
"protein_id": "ENSP00000280772.1",
"transcript_support_level": 1,
"aa_start": 907,
"aa_end": null,
"aa_length": 4377,
"cds_start": 2721,
"cds_end": null,
"cds_length": 13134,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 17019,
"mane_select": "NM_020987.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2703C>G",
"hgvs_p": "p.Leu901Leu",
"transcript": "ENST00000373827.6",
"protein_id": "ENSP00000362933.2",
"transcript_support_level": 1,
"aa_start": 901,
"aa_end": null,
"aa_length": 1861,
"cds_start": 2703,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 2874,
"cdna_end": null,
"cdna_length": 7202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.123C>G",
"hgvs_p": "p.Leu41Leu",
"transcript": "ENST00000355288.6",
"protein_id": "ENSP00000347436.2",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 1001,
"cds_start": 123,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2724C>G",
"hgvs_p": "p.Leu908Leu",
"transcript": "NM_001204404.2",
"protein_id": "NP_001191333.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1868,
"cds_start": 2724,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 3153,
"cdna_end": null,
"cdna_length": 9584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2724C>G",
"hgvs_p": "p.Leu908Leu",
"transcript": "ENST00000503366.6",
"protein_id": "ENSP00000425236.1",
"transcript_support_level": 2,
"aa_start": 908,
"aa_end": null,
"aa_length": 1868,
"cds_start": 2724,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 3153,
"cdna_end": null,
"cdna_length": 9584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2721C>G",
"hgvs_p": "p.Leu907Leu",
"transcript": "NM_001320874.2",
"protein_id": "NP_001307803.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1867,
"cds_start": 2721,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 9489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2703C>G",
"hgvs_p": "p.Leu901Leu",
"transcript": "NM_001204403.2",
"protein_id": "NP_001191332.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1861,
"cds_start": 2703,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 9343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2682C>G",
"hgvs_p": "p.Leu894Leu",
"transcript": "ENST00000467420.7",
"protein_id": "ENSP00000423968.2",
"transcript_support_level": 5,
"aa_start": 894,
"aa_end": null,
"aa_length": 1792,
"cds_start": 2682,
"cds_end": null,
"cds_length": 5379,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.123C>G",
"hgvs_p": "p.Leu41Leu",
"transcript": "NM_001149.4",
"protein_id": "NP_001140.2",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1001,
"cds_start": 123,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Leu35Leu",
"transcript": "ENST00000618080.4",
"protein_id": "ENSP00000482307.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 199,
"cds_start": 105,
"cds_end": null,
"cds_length": 602,
"cdna_start": 107,
"cdna_end": null,
"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000373815.5",
"protein_id": "ENSP00000362921.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 194,
"cds_start": 96,
"cds_end": null,
"cds_length": 586,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000513049.5",
"protein_id": "ENSP00000426582.1",
"transcript_support_level": 4,
"aa_start": 32,
"aa_end": null,
"aa_length": 158,
"cds_start": 96,
"cds_end": null,
"cds_length": 477,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.297C>G",
"hgvs_p": "p.Leu99Leu",
"transcript": "ENST00000474360.1",
"protein_id": "ENSP00000422657.1",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 114,
"cds_start": 297,
"cds_end": null,
"cds_length": 345,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.213C>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000460468.5",
"protein_id": "ENSP00000426690.1",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 86,
"cds_start": 213,
"cds_end": null,
"cds_length": 261,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000506635.5",
"protein_id": "ENSP00000422506.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 71,
"cds_start": 96,
"cds_end": null,
"cds_length": 216,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000486349.2",
"protein_id": "ENSP00000483483.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 63,
"cds_start": 96,
"cds_end": null,
"cds_length": 192,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "n.*1290C>G",
"hgvs_p": null,
"transcript": "ENST00000622427.4",
"protein_id": "ENSP00000483244.1",
"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": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "n.*1290C>G",
"hgvs_p": null,
"transcript": "ENST00000622427.4",
"protein_id": "ENSP00000483244.1",
"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": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"dbsnp": "rs142825560",
"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": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.013,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000280772.7",
"gene_symbol": "ANK3",
"hgnc_id": 494,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2721C>G",
"hgvs_p": "p.Leu907Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}