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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: 2-277250-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=277250&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 277250,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004300.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Thr141Thr",
"transcript": "NM_004300.4",
"protein_id": "NP_004291.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 158,
"cds_start": 423,
"cds_end": null,
"cds_length": 477,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": "ENST00000272065.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004300.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Thr141Thr",
"transcript": "ENST00000272065.10",
"protein_id": "ENSP00000272065.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 158,
"cds_start": 423,
"cds_end": null,
"cds_length": 477,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": "NM_004300.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272065.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Thr141Thr",
"transcript": "ENST00000272067.11",
"protein_id": "ENSP00000272067.6",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 158,
"cds_start": 423,
"cds_end": null,
"cds_length": 477,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272067.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.*239G>A",
"hgvs_p": null,
"transcript": "ENST00000453390.5",
"protein_id": "ENSP00000411121.1",
"transcript_support_level": 1,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453390.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.*239G>A",
"hgvs_p": null,
"transcript": "ENST00000453390.5",
"protein_id": "ENSP00000411121.1",
"transcript_support_level": 1,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453390.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Thr141Thr",
"transcript": "NM_007099.4",
"protein_id": "NP_009030.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 158,
"cds_start": 423,
"cds_end": null,
"cds_length": 477,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007099.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Thr132Thr",
"transcript": "ENST00000896690.1",
"protein_id": "ENSP00000566749.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 149,
"cds_start": 396,
"cds_end": null,
"cds_length": 450,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896690.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.357G>A",
"hgvs_p": "p.Thr119Thr",
"transcript": "ENST00000896688.1",
"protein_id": "ENSP00000566747.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 136,
"cds_start": 357,
"cds_end": null,
"cds_length": 411,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896688.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Thr110Thr",
"transcript": "ENST00000896691.1",
"protein_id": "ENSP00000566750.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 127,
"cds_start": 330,
"cds_end": null,
"cds_length": 384,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896691.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.309G>A",
"hgvs_p": "p.Thr103Thr",
"transcript": "ENST00000896686.1",
"protein_id": "ENSP00000566745.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 120,
"cds_start": 309,
"cds_end": null,
"cds_length": 363,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896686.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.255G>A",
"hgvs_p": "p.Thr85Thr",
"transcript": "ENST00000896687.1",
"protein_id": "ENSP00000566746.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 102,
"cds_start": 255,
"cds_end": null,
"cds_length": 309,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896687.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.255G>A",
"hgvs_p": "p.Thr85Thr",
"transcript": "ENST00000972067.1",
"protein_id": "ENSP00000642126.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 102,
"cds_start": 255,
"cds_end": null,
"cds_length": 309,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972067.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.141G>A",
"hgvs_p": "p.Thr47Thr",
"transcript": "ENST00000896689.1",
"protein_id": "ENSP00000566748.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 64,
"cds_start": 141,
"cds_end": null,
"cds_length": 195,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000413140.5",
"protein_id": "ENSP00000410331.1",
"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": 689,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413140.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.*329G>A",
"hgvs_p": null,
"transcript": "ENST00000442386.5",
"protein_id": "ENSP00000389681.1",
"transcript_support_level": 4,
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442386.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.759G>A",
"hgvs_p": null,
"transcript": "ENST00000463831.1",
"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": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463831.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.454G>A",
"hgvs_p": null,
"transcript": "ENST00000484464.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484464.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.470G>A",
"hgvs_p": null,
"transcript": "NR_024080.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_024080.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000413140.5",
"protein_id": "ENSP00000410331.1",
"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": 689,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413140.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.*329G>A",
"hgvs_p": null,
"transcript": "ENST00000442386.5",
"protein_id": "ENSP00000389681.1",
"transcript_support_level": 4,
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442386.5"
}
],
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"dbsnp": "rs55709515",
"frequency_reference_population": 0.004163088,
"hom_count_reference_population": 50,
"allele_count_reference_population": 6718,
"gnomad_exomes_af": 0.00410077,
"gnomad_genomes_af": 0.00476115,
"gnomad_exomes_ac": 5993,
"gnomad_genomes_ac": 725,
"gnomad_exomes_homalt": 43,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.30000001192092896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.23999999463558197,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.02,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"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": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004300.4",
"gene_symbol": "ACP1",
"hgnc_id": 122,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Thr141Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}