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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: 8-107901108-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=107901108&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 107901108,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_178565.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Ser233Ser",
"transcript": "NM_178565.5",
"protein_id": "NP_848660.3",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 243,
"cds_start": 699,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276659.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178565.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Ser233Ser",
"transcript": "ENST00000276659.10",
"protein_id": "ENSP00000276659.5",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 243,
"cds_start": 699,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178565.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276659.10"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ser169Ser",
"transcript": "ENST00000517781.5",
"protein_id": "ENSP00000427937.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 179,
"cds_start": 507,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517781.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Ser166Ser",
"transcript": "ENST00000517939.5",
"protein_id": "ENSP00000428940.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 176,
"cds_start": 498,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517939.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Ser233Ser",
"transcript": "ENST00000971030.1",
"protein_id": "ENSP00000641089.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 243,
"cds_start": 699,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971030.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.696C>T",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000851102.1",
"protein_id": "ENSP00000521161.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 242,
"cds_start": 696,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851102.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000851104.1",
"protein_id": "ENSP00000521163.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 239,
"cds_start": 687,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851104.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.510C>T",
"hgvs_p": "p.Ser170Ser",
"transcript": "ENST00000971029.1",
"protein_id": "ENSP00000641088.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 180,
"cds_start": 510,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971029.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ser169Ser",
"transcript": "NM_001282863.2",
"protein_id": "NP_001269792.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 179,
"cds_start": 507,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282863.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Ser166Ser",
"transcript": "NM_001317942.2",
"protein_id": "NP_001304871.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 176,
"cds_start": 498,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317942.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Ser59Ser",
"transcript": "ENST00000851103.1",
"protein_id": "ENSP00000521162.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 69,
"cds_start": 177,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "n.668C>T",
"hgvs_p": null,
"transcript": "ENST00000521502.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "n.*778C>T",
"hgvs_p": null,
"transcript": "ENST00000666252.1",
"protein_id": "ENSP00000499279.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000666252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "n.*778C>T",
"hgvs_p": null,
"transcript": "ENST00000666252.1",
"protein_id": "ENSP00000499279.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000666252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287949",
"gene_hgnc_id": null,
"hgvs_c": "n.81-17062G>A",
"hgvs_p": null,
"transcript": "ENST00000665144.1",
"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": "ENST00000665144.1"
}
],
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"dbsnp": "rs767045413",
"frequency_reference_population": 0.000009913456,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102613,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.663,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_178565.5",
"gene_symbol": "RSPO2",
"hgnc_id": 28583,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Ser233Ser"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000665144.1",
"gene_symbol": "ENSG00000287949",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.81-17062G>A",
"hgvs_p": null
}
],
"clinvar_disease": "RSPO2-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided|RSPO2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}