← Back to variant description
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: 13-52012013-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=52012013&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 52012013,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001406511.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-411A>G",
"hgvs_p": null,
"transcript": "ENST00000911501.1",
"protein_id": "ENSP00000581560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1465,
"cds_start": null,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-676A>G",
"hgvs_p": null,
"transcript": "ENST00000873569.1",
"protein_id": "ENSP00000543628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873569.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-676A>G",
"hgvs_p": null,
"transcript": "ENST00000713659.1",
"protein_id": "ENSP00000518961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1249,
"cds_start": null,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "NM_001406511.1",
"protein_id": "NP_001393440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1465,
"cds_start": null,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406511.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "ENST00000873567.1",
"protein_id": "ENSP00000543626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1465,
"cds_start": null,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "NM_001406513.1",
"protein_id": "NP_001393442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "NM_001406521.1",
"protein_id": "NP_001393450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406521.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "ENST00000873568.1",
"protein_id": "ENSP00000543627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873568.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "NM_001406527.1",
"protein_id": "NP_001393456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1387,
"cds_start": null,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-239+7A>G",
"hgvs_p": null,
"transcript": "NM_001406528.1",
"protein_id": "NP_001393457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1387,
"cds_start": null,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "NM_001406531.1",
"protein_id": "NP_001393460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1381,
"cds_start": null,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "NM_001406537.1",
"protein_id": "NP_001393466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": null,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null,
"transcript": "NM_001406541.1",
"protein_id": "NP_001393470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": null,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-184+7A>G",
"hgvs_p": null,
"transcript": "NM_001406543.1",
"protein_id": "NP_001393472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": null,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.106+7A>G",
"hgvs_p": null,
"transcript": "ENST00000635406.1",
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000635406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-411A>G",
"hgvs_p": null,
"transcript": "NM_001406512.1",
"protein_id": "NP_001393441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1465,
"cds_start": null,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-180A>G",
"hgvs_p": null,
"transcript": "ENST00000873570.1",
"protein_id": "ENSP00000543629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-411A>G",
"hgvs_p": null,
"transcript": "NM_001406516.1",
"protein_id": "NP_001393445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": null,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406516.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-411A>G",
"hgvs_p": null,
"transcript": "NM_001406522.1",
"protein_id": "NP_001393451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.-595A>G",
"hgvs_p": null,
"transcript": "NM_001406532.1",
"protein_id": "NP_001393461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1381,
"cds_start": null,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406532.1"
}
],
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"dbsnp": "rs1021025464",
"frequency_reference_population": 0.00020180686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.000272258,
"gnomad_genomes_af": 0.000105006,
"gnomad_exomes_ac": 57,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.963,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS3,PP5,BP4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 1,
"pathogenic_score": 5,
"criteria": [
"PS3",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001406511.1",
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-55+7A>G",
"hgvs_p": null
}
],
"clinvar_disease": "ATP7B-related disorder,Wilson disease,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:2 US:1",
"phenotype_combined": "not provided|Wilson disease|ATP7B-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}