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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: 1-24369710-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=24369710&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 24369710,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001199012.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Ser234Asn",
"transcript": "NM_001199013.2",
"protein_id": "NP_001185942.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 334,
"cds_start": 701,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337248.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199013.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Ser234Asn",
"transcript": "ENST00000337248.9",
"protein_id": "ENSP00000337461.4",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 334,
"cds_start": 701,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199013.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337248.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "n.4174G>A",
"hgvs_p": null,
"transcript": "ENST00000468303.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000468303.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Ser234Asn",
"transcript": "NM_001199012.2",
"protein_id": "NP_001185941.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 334,
"cds_start": 701,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199012.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Ser234Asn",
"transcript": "ENST00000374409.5",
"protein_id": "ENSP00000363530.1",
"transcript_support_level": 2,
"aa_start": 234,
"aa_end": null,
"aa_length": 334,
"cds_start": 701,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374409.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Ser234Asn",
"transcript": "ENST00000869689.1",
"protein_id": "ENSP00000539748.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 334,
"cds_start": 701,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869689.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Ser234Asn",
"transcript": "ENST00000939222.1",
"protein_id": "ENSP00000609281.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 294,
"cds_start": 701,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939222.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Ser187Asn",
"transcript": "NM_178122.5",
"protein_id": "NP_835223.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 287,
"cds_start": 560,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178122.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Ser187Asn",
"transcript": "ENST00000003583.12",
"protein_id": "ENSP00000003583.8",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 287,
"cds_start": 560,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000003583.12"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Ser142Asn",
"transcript": "NM_001199014.2",
"protein_id": "NP_001185943.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 242,
"cds_start": 425,
"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": "NM_001199014.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Ser137Asn",
"transcript": "ENST00000438866.1",
"protein_id": "ENSP00000416176.1",
"transcript_support_level": 2,
"aa_start": 137,
"aa_end": null,
"aa_length": 168,
"cds_start": 410,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438866.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Ser187Asn",
"transcript": "XM_011542403.3",
"protein_id": "XP_011540705.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 287,
"cds_start": 560,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542403.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Ser187Asn",
"transcript": "XM_047433681.1",
"protein_id": "XP_047289637.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 287,
"cds_start": 560,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433681.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "c.571+3992G>A",
"hgvs_p": null,
"transcript": "ENST00000939221.1",
"protein_id": "ENSP00000609280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939221.1"
},
{
"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": "STPG1",
"gene_hgnc_id": 28070,
"hgvs_c": "n.679G>A",
"hgvs_p": null,
"transcript": "ENST00000497384.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497384.1"
}
],
"gene_symbol": "STPG1",
"gene_hgnc_id": 28070,
"dbsnp": "rs761620506",
"frequency_reference_population": 0.000008252096,
"hom_count_reference_population": 1,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000082521,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01965498924255371,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0711,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.208,
"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_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001199012.2",
"gene_symbol": "STPG1",
"hgnc_id": 28070,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Ser234Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}