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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: 20-62143877-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62143877&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62143877,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198935.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "c.57A>C",
"hgvs_p": "p.Gln19His",
"transcript": "NM_198935.3",
"protein_id": "NP_945173.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 396,
"cds_start": 57,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": "ENST00000331758.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "c.57A>C",
"hgvs_p": "p.Gln19His",
"transcript": "ENST00000331758.8",
"protein_id": "ENSP00000333012.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 396,
"cds_start": 57,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": "NM_198935.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "c.57A>C",
"hgvs_p": "p.Gln19His",
"transcript": "XM_005260389.4",
"protein_id": "XP_005260446.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 416,
"cds_start": 57,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "n.109A>C",
"hgvs_p": null,
"transcript": "NR_125980.3",
"protein_id": null,
"transcript_support_level": null,
"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": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "n.109A>C",
"hgvs_p": null,
"transcript": "NR_125981.3",
"protein_id": null,
"transcript_support_level": null,
"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": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "n.109A>C",
"hgvs_p": null,
"transcript": "XR_007067449.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "c.-442A>C",
"hgvs_p": null,
"transcript": "NM_001301778.2",
"protein_id": "NP_001288707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "c.-314A>C",
"hgvs_p": null,
"transcript": "ENST00000450482.5",
"protein_id": "ENSP00000398634.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"hgvs_c": "c.-3692A>C",
"hgvs_p": null,
"transcript": "XM_047440083.1",
"protein_id": "XP_047296039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SS18L1",
"gene_hgnc_id": 15592,
"dbsnp": "rs763967461",
"frequency_reference_population": 0.000011051573,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.0000116071,
"gnomad_genomes_af": 0.00000681292,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1300741732120514,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.5967,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.148,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_198935.3",
"gene_symbol": "SS18L1",
"hgnc_id": 15592,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.57A>C",
"hgvs_p": "p.Gln19His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}