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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: 17-7343532-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7343532&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ACAP1",
"hgnc_id": 16467,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_014716.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_score": -11,
"allele_count_reference_population": 91190,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.44999998807907104,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 740,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 704,
"cds_end": null,
"cds_length": 2223,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014716.4",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000158762.8",
"protein_coding": true,
"protein_id": "NP_055531.1",
"strand": true,
"transcript": "NM_014716.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 740,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 704,
"cds_end": null,
"cds_length": 2223,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000158762.8",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014716.4",
"protein_coding": true,
"protein_id": "ENSP00000158762.3",
"strand": true,
"transcript": "ENST00000158762.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 766,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2582,
"cdna_start": 698,
"cds_end": null,
"cds_length": 2301,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911039.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581098.1",
"strand": true,
"transcript": "ENST00000911039.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 752,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 694,
"cds_end": null,
"cds_length": 2259,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911040.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581099.1",
"strand": true,
"transcript": "ENST00000911040.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 744,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 726,
"cds_end": null,
"cds_length": 2235,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915459.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585518.1",
"strand": true,
"transcript": "ENST00000915459.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 740,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2223,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911038.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581097.1",
"strand": true,
"transcript": "ENST00000911038.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 665,
"cds_end": null,
"cds_length": 2220,
"cds_start": 495,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911041.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Tyr165Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581100.1",
"strand": true,
"transcript": "ENST00000911041.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 719,
"cds_end": null,
"cds_length": 2220,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915460.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585519.1",
"strand": true,
"transcript": "ENST00000915460.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 728,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 642,
"cds_end": null,
"cds_length": 2187,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911042.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581101.1",
"strand": true,
"transcript": "ENST00000911042.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 715,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 719,
"cds_end": null,
"cds_length": 2148,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915461.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585520.1",
"strand": true,
"transcript": "ENST00000915461.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 147,
"aa_ref": "Y",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 870,
"cdna_start": 702,
"cds_end": null,
"cds_length": 444,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000570457.6",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Tyr92Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458173.2",
"strand": true,
"transcript": "ENST00000570457.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 100,
"aa_ref": "Y",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 614,
"cdna_start": 585,
"cds_end": null,
"cds_length": 305,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000575425.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Tyr92Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459422.1",
"strand": true,
"transcript": "ENST00000575425.1",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 666,
"aa_ref": "Y",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2001,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047437150.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Tyr92Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293106.1",
"strand": true,
"transcript": "XM_047437150.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 666,
"aa_ref": "Y",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 646,
"cds_end": null,
"cds_length": 2001,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047437151.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Tyr92Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293107.1",
"strand": true,
"transcript": "XM_047437151.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 565,
"aa_ref": "Y",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1698,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047437152.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293108.1",
"strand": true,
"transcript": "XM_047437152.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 953,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000571220.1",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "n.598C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000571220.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 593,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000573893.5",
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"hgvs_c": "n.347C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000573893.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3809828",
"effect": "synonymous_variant",
"frequency_reference_population": 0.056511216,
"gene_hgnc_id": 16467,
"gene_symbol": "ACAP1",
"gnomad_exomes_ac": 83519,
"gnomad_exomes_af": 0.0571474,
"gnomad_exomes_homalt": 2748,
"gnomad_genomes_ac": 7671,
"gnomad_genomes_af": 0.0504021,
"gnomad_genomes_homalt": 292,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 3040,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.858,
"pos": 7343532,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07999999821186066,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.08,
"transcript": "NM_014716.4"
}
]
}