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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: 11-83206107-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83206107&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 83206107,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000528722.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.-68C>T",
"hgvs_p": null,
"transcript": "ENST00000528722.5",
"protein_id": "ENSP00000432375.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528722.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "NM_001300975.2",
"protein_id": "NP_001287904.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 527,
"cds_start": 272,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533342.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300975.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "ENST00000533342.6",
"protein_id": "ENSP00000435790.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 527,
"cds_start": 272,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300975.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533342.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "ENST00000260047.10",
"protein_id": "ENSP00000260047.6",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 517,
"cds_start": 272,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260047.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "ENST00000531895.5",
"protein_id": "ENSP00000434666.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 502,
"cds_start": 272,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531895.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "ENST00000526731.5",
"protein_id": "ENSP00000433585.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 230,
"cds_start": 272,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526731.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "ENST00000393389.7",
"protein_id": "ENSP00000377049.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 198,
"cds_start": 272,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393389.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.-68C>T",
"hgvs_p": null,
"transcript": "ENST00000528722.5",
"protein_id": "ENSP00000432375.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528722.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "NM_001433541.1",
"protein_id": "NP_001420470.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 532,
"cds_start": 272,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001433541.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "NM_001300973.2",
"protein_id": "NP_001287902.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 517,
"cds_start": 272,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300973.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "NM_001300972.2",
"protein_id": "NP_001287901.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 502,
"cds_start": 272,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300972.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Thr63Met",
"transcript": "ENST00000860470.1",
"protein_id": "ENSP00000530529.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 499,
"cds_start": 188,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860470.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "ENST00000934336.1",
"protein_id": "ENSP00000604395.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 426,
"cds_start": 272,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934336.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Thr63Met",
"transcript": "NM_182603.4",
"protein_id": "NP_872409.2",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 389,
"cds_start": 188,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182603.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Thr63Met",
"transcript": "ENST00000393392.6",
"protein_id": "ENSP00000377051.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 389,
"cds_start": 188,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393392.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "NM_001300976.2",
"protein_id": "NP_001287905.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 230,
"cds_start": 272,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300976.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Met",
"transcript": "NM_001300977.2",
"protein_id": "NP_001287906.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 198,
"cds_start": 272,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300977.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"hgvs_c": "n.537C>T",
"hgvs_p": null,
"transcript": "NR_125355.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_125355.2"
}
],
"gene_symbol": "ANKRD42",
"gene_hgnc_id": 26752,
"dbsnp": "rs763601768",
"frequency_reference_population": 0.000011772929,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000123141,
"gnomad_genomes_af": 0.00000657315,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05967307090759277,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.0937,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.553,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000528722.5",
"gene_symbol": "ANKRD42",
"hgnc_id": 26752,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-68C>T",
"hgvs_p": null
}
],
"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
}