← Back to variant description
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: 20-34928880-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34928880&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34928880,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651619.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1373A>T",
"hgvs_p": "p.Asp458Val",
"transcript": "NM_000178.4",
"protein_id": "NP_000169.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 474,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": "ENST00000651619.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1373A>T",
"hgvs_p": "p.Asp458Val",
"transcript": "ENST00000651619.1",
"protein_id": "ENSP00000498303.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 474,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": "NM_000178.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Asp347Val",
"transcript": "ENST00000451957.2",
"protein_id": "ENSP00000407517.2",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 363,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1373A>T",
"hgvs_p": "p.Asp458Val",
"transcript": "NM_001322494.1",
"protein_id": "NP_001309423.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 474,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1373A>T",
"hgvs_p": "p.Asp458Val",
"transcript": "NM_001322495.1",
"protein_id": "NP_001309424.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 474,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1373A>T",
"hgvs_p": "p.Asp458Val",
"transcript": "ENST00000643188.1",
"protein_id": "ENSP00000493903.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 474,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1373A>T",
"hgvs_p": "p.Asp458Val",
"transcript": "ENST00000644793.1",
"protein_id": "ENSP00000495750.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 474,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Asp347Val",
"transcript": "ENST00000646735.1",
"protein_id": "ENSP00000493763.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 363,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.1028A>T",
"hgvs_p": "p.Asp343Val",
"transcript": "ENST00000643502.1",
"protein_id": "ENSP00000494819.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 359,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.*1080A>T",
"hgvs_p": null,
"transcript": "ENST00000643443.1",
"protein_id": "ENSP00000495572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.1591A>T",
"hgvs_p": null,
"transcript": "ENST00000643908.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.1650A>T",
"hgvs_p": null,
"transcript": "ENST00000644538.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.2612A>T",
"hgvs_p": null,
"transcript": "ENST00000645723.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.*791A>T",
"hgvs_p": null,
"transcript": "ENST00000646405.1",
"protein_id": "ENSP00000493744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.1519A>T",
"hgvs_p": null,
"transcript": "ENST00000646512.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.*306A>T",
"hgvs_p": null,
"transcript": "ENST00000642498.1",
"protein_id": "ENSP00000493631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "c.*52A>T",
"hgvs_p": null,
"transcript": "ENST00000645328.1",
"protein_id": "ENSP00000495404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.*1080A>T",
"hgvs_p": null,
"transcript": "ENST00000643443.1",
"protein_id": "ENSP00000495572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.*791A>T",
"hgvs_p": null,
"transcript": "ENST00000646405.1",
"protein_id": "ENSP00000493744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.*1166A>T",
"hgvs_p": null,
"transcript": "ENST00000642538.1",
"protein_id": "ENSP00000493927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"hgvs_c": "n.*212A>T",
"hgvs_p": null,
"transcript": "ENST00000644694.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GSS",
"gene_hgnc_id": 4624,
"dbsnp": "rs1311370705",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9112253189086914,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.949,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9507,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.757,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000651619.1",
"gene_symbol": "GSS",
"hgnc_id": 4624,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1373A>T",
"hgvs_p": "p.Asp458Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}