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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: 11-90218147-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=90218147&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 90218147,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012124.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "c.102C>G",
"hgvs_p": "p.His34Gln",
"transcript": "NM_012124.3",
"protein_id": "NP_036256.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 332,
"cds_start": 102,
"cds_end": null,
"cds_length": 999,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": "ENST00000320585.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012124.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "c.102C>G",
"hgvs_p": "p.His34Gln",
"transcript": "ENST00000320585.11",
"protein_id": "ENSP00000319255.6",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 332,
"cds_start": 102,
"cds_end": null,
"cds_length": 999,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": "NM_012124.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320585.11"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "c.102C>G",
"hgvs_p": "p.His34Gln",
"transcript": "ENST00000457199.6",
"protein_id": "ENSP00000401080.2",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 313,
"cds_start": 102,
"cds_end": null,
"cds_length": 942,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457199.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "c.102C>G",
"hgvs_p": "p.His34Gln",
"transcript": "NM_001144073.2",
"protein_id": "NP_001137545.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 313,
"cds_start": 102,
"cds_end": null,
"cds_length": 942,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144073.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "c.102C>G",
"hgvs_p": "p.His34Gln",
"transcript": "ENST00000907759.1",
"protein_id": "ENSP00000577818.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 311,
"cds_start": 102,
"cds_end": null,
"cds_length": 936,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907759.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "c.102C>G",
"hgvs_p": "p.His34Gln",
"transcript": "ENST00000530765.5",
"protein_id": "ENSP00000431929.1",
"transcript_support_level": 4,
"aa_start": 34,
"aa_end": null,
"aa_length": 116,
"cds_start": 102,
"cds_end": null,
"cds_length": 351,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530765.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "c.102C>G",
"hgvs_p": "p.His34Gln",
"transcript": "XM_047426767.1",
"protein_id": "XP_047282723.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 184,
"cds_start": 102,
"cds_end": null,
"cds_length": 555,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "c.-241C>G",
"hgvs_p": null,
"transcript": "XM_017017541.3",
"protein_id": "XP_016873030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017541.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "n.102C>G",
"hgvs_p": null,
"transcript": "ENST00000525317.5",
"protein_id": "ENSP00000436945.1",
"transcript_support_level": 5,
"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": 1136,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525317.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "n.*110C>G",
"hgvs_p": null,
"transcript": "ENST00000529402.1",
"protein_id": "ENSP00000432019.1",
"transcript_support_level": 3,
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529402.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "n.102C>G",
"hgvs_p": null,
"transcript": "ENST00000533062.5",
"protein_id": "ENSP00000433440.1",
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533062.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "n.189C>G",
"hgvs_p": null,
"transcript": "ENST00000533724.5",
"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": 5361,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533724.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "n.182C>G",
"hgvs_p": null,
"transcript": "ENST00000533739.1",
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533739.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "n.102C>G",
"hgvs_p": null,
"transcript": "ENST00000533772.5",
"protein_id": "ENSP00000434040.1",
"transcript_support_level": 5,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533772.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"hgvs_c": "n.*110C>G",
"hgvs_p": null,
"transcript": "ENST00000529402.1",
"protein_id": "ENSP00000432019.1",
"transcript_support_level": 3,
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529402.1"
}
],
"gene_symbol": "CHORDC1",
"gene_hgnc_id": 14525,
"dbsnp": "rs146907011",
"frequency_reference_population": 0.000038760085,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000407753,
"gnomad_genomes_af": 0.0000198211,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9158494472503662,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.694,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.323,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012124.3",
"gene_symbol": "CHORDC1",
"hgnc_id": 14525,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.102C>G",
"hgvs_p": "p.His34Gln"
}
],
"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
}