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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: 18-31591900-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31591900&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31591900,
"ref": "A",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "NM_000371.4",
"consequences": [
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-3A>G",
"hgvs_p": null,
"transcript": "NM_000371.4",
"protein_id": "NP_000362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000237014.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000371.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-3A>G",
"hgvs_p": null,
"transcript": "ENST00000237014.8",
"protein_id": "ENSP00000237014.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000371.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237014.8"
},
{
"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": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-3A>G",
"hgvs_p": null,
"transcript": "ENST00000858991.1",
"protein_id": "ENSP00000529050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858991.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-3A>G",
"hgvs_p": null,
"transcript": "ENST00000858992.1",
"protein_id": "ENSP00000529051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-1-2A>G",
"hgvs_p": null,
"transcript": "ENST00000649620.1",
"protein_id": "ENSP00000497927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-1-2A>G",
"hgvs_p": null,
"transcript": "ENST00000858988.1",
"protein_id": "ENSP00000529047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858988.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-1-2A>G",
"hgvs_p": null,
"transcript": "ENST00000858989.1",
"protein_id": "ENSP00000529048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-1-2A>G",
"hgvs_p": null,
"transcript": "ENST00000858990.1",
"protein_id": "ENSP00000529049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-27-996A>G",
"hgvs_p": null,
"transcript": "ENST00000610404.5",
"protein_id": "ENSP00000477599.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610404.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-1-2A>G",
"hgvs_p": null,
"transcript": "ENST00000613781.2",
"protein_id": "ENSP00000479174.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 22,
"cds_start": null,
"cds_end": null,
"cds_length": 69,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613781.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.-1-2A>G",
"hgvs_p": null,
"transcript": "ENST00000676075.1",
"protein_id": "ENSP00000502027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 22,
"cds_start": null,
"cds_end": null,
"cds_length": 69,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676075.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "n.24A>G",
"hgvs_p": null,
"transcript": "ENST00000432547.7",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000432547.7"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "n.24A>G",
"hgvs_p": null,
"transcript": "ENST00000541025.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000541025.2"
}
],
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"dbsnp": "rs745422404",
"frequency_reference_population": 0.000012390913,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.000011629,
"gnomad_genomes_af": 0.0000197081,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.602,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_Strong,BP6,BS2_Supporting",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_000371.4",
"gene_symbol": "TTR",
"hgnc_id": 12405,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-3A>G",
"hgvs_p": null
}
],
"clinvar_disease": " dystransthyretinemic, hereditary systemic 1,Amyloidosis,Cardiovascular phenotype,Carpal tunnel syndrome 1,Hyperthyroxinemia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not provided|Cardiovascular phenotype|Carpal tunnel syndrome 1;Amyloidosis, hereditary systemic 1;Hyperthyroxinemia, dystransthyretinemic",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}