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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: 8-73071870-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=73071870&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 73071870,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_153225.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "NM_153225.4",
"protein_id": "NP_694957.3",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 264,
"cds_start": 410,
"cds_end": null,
"cds_length": 795,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": "ENST00000297354.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153225.4"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "ENST00000297354.7",
"protein_id": "ENSP00000297354.6",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 264,
"cds_start": 410,
"cds_end": null,
"cds_length": 795,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": "NM_153225.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297354.7"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "c.215T>A",
"hgvs_p": "p.Val72Asp",
"transcript": "ENST00000964790.1",
"protein_id": "ENSP00000634849.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 199,
"cds_start": 215,
"cds_end": null,
"cds_length": 600,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964790.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "c.308T>A",
"hgvs_p": "p.Ile103Asn",
"transcript": "XM_047421408.1",
"protein_id": "XP_047277364.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 230,
"cds_start": 308,
"cds_end": null,
"cds_length": 693,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421408.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "c.224T>A",
"hgvs_p": "p.Val75Asp",
"transcript": "XM_017013145.2",
"protein_id": "XP_016868634.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 202,
"cds_start": 224,
"cds_end": null,
"cds_length": 609,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013145.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "c.*3T>A",
"hgvs_p": null,
"transcript": "XM_024447081.2",
"protein_id": "XP_024302849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447081.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "c.*3T>A",
"hgvs_p": null,
"transcript": "XM_024447081.2",
"protein_id": "XP_024302849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447081.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "n.778T>A",
"hgvs_p": null,
"transcript": "ENST00000519697.1",
"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": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"hgvs_c": "n.676T>A",
"hgvs_p": null,
"transcript": "XR_928762.3",
"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": 765,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_928762.3"
}
],
"gene_symbol": "SBSPON",
"gene_hgnc_id": 30362,
"dbsnp": "rs200280794",
"frequency_reference_population": 0.000033152144,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.000014518,
"gnomad_genomes_af": 0.00021023,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34432631731033325,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3580000102519989,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.5699,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.646,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0270509074054051,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_153225.4",
"gene_symbol": "SBSPON",
"hgnc_id": 30362,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp"
}
],
"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
}