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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: 19-14478566-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14478566&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14478566,
"ref": "C",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000393033.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.852G>C",
"hgvs_p": "p.Ala284Ala",
"transcript": "NM_005716.4",
"protein_id": "NP_005707.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 333,
"cds_start": 852,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": "ENST00000393033.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.852G>C",
"hgvs_p": "p.Ala284Ala",
"transcript": "ENST00000393033.9",
"protein_id": "ENSP00000376753.3",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 333,
"cds_start": 852,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": "NM_005716.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.852G>C",
"hgvs_p": "p.Ala284Ala",
"transcript": "ENST00000345425.6",
"protein_id": "ENSP00000340698.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 333,
"cds_start": 852,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.852G>C",
"hgvs_p": "p.Ala284Ala",
"transcript": "NM_202468.3",
"protein_id": "NP_974197.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 333,
"cds_start": 852,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.852G>C",
"hgvs_p": "p.Ala284Ala",
"transcript": "NM_202470.3",
"protein_id": "NP_974199.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 333,
"cds_start": 852,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.852G>C",
"hgvs_p": "p.Ala284Ala",
"transcript": "ENST00000586027.5",
"protein_id": "ENSP00000466747.1",
"transcript_support_level": 2,
"aa_start": 284,
"aa_end": null,
"aa_length": 333,
"cds_start": 852,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.561G>C",
"hgvs_p": "p.Ala187Ala",
"transcript": "NM_202469.3",
"protein_id": "NP_974198.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 236,
"cds_start": 561,
"cds_end": null,
"cds_length": 711,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.561G>C",
"hgvs_p": "p.Ala187Ala",
"transcript": "NM_202494.3",
"protein_id": "NP_974223.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 236,
"cds_start": 561,
"cds_end": null,
"cds_length": 711,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.561G>C",
"hgvs_p": "p.Ala187Ala",
"transcript": "ENST00000393028.5",
"protein_id": "ENSP00000376748.1",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 236,
"cds_start": 561,
"cds_end": null,
"cds_length": 711,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.561G>C",
"hgvs_p": "p.Ala187Ala",
"transcript": "ENST00000591349.5",
"protein_id": "ENSP00000467077.1",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 236,
"cds_start": 561,
"cds_end": null,
"cds_length": 711,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.237G>C",
"hgvs_p": "p.Ala79Ala",
"transcript": "ENST00000589631.5",
"protein_id": "ENSP00000466312.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 128,
"cds_start": 237,
"cds_end": null,
"cds_length": 387,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.852G>C",
"hgvs_p": "p.Ala284Ala",
"transcript": "XM_017026147.2",
"protein_id": "XP_016881636.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 333,
"cds_start": 852,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "c.561G>C",
"hgvs_p": "p.Ala187Ala",
"transcript": "XM_017026148.3",
"protein_id": "XP_016881637.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 236,
"cds_start": 561,
"cds_end": null,
"cds_length": 711,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "n.1269G>C",
"hgvs_p": null,
"transcript": "ENST00000585606.5",
"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": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "n.*191G>C",
"hgvs_p": null,
"transcript": "ENST00000589497.5",
"protein_id": "ENSP00000465003.1",
"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": 853,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"hgvs_c": "n.*191G>C",
"hgvs_p": null,
"transcript": "ENST00000589497.5",
"protein_id": "ENSP00000465003.1",
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GIPC1",
"gene_hgnc_id": 1226,
"dbsnp": "rs1127307",
"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": -0.3499999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.02199999988079071,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.762,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000106791793869525,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393033.9",
"gene_symbol": "GIPC1",
"hgnc_id": 1226,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.852G>C",
"hgvs_p": "p.Ala284Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}