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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: 7-65967798-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=65967798&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 65967798,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000304895.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Tyr529Cys",
"transcript": "NM_000181.4",
"protein_id": "NP_000172.2",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 651,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": "ENST00000304895.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Tyr529Cys",
"transcript": "ENST00000304895.9",
"protein_id": "ENSP00000302728.4",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 651,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": "NM_000181.4",
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.111A>G",
"hgvs_p": null,
"transcript": "ENST00000461622.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Tyr383Cys",
"transcript": "NM_001284290.2",
"protein_id": "NP_001271219.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 505,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Tyr383Cys",
"transcript": "ENST00000421103.5",
"protein_id": "ENSP00000391390.1",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 505,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Tyr339Cys",
"transcript": "NM_001293104.2",
"protein_id": "NP_001280033.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 461,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Tyr310Cys",
"transcript": "NM_001293105.2",
"protein_id": "NP_001280034.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 432,
"cds_start": 929,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Tyr478Cys",
"transcript": "XM_005250297.5",
"protein_id": "XP_005250354.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 600,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.Tyr362Cys",
"transcript": "XM_047420286.1",
"protein_id": "XP_047276242.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 484,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Tyr311Cys",
"transcript": "XM_017012091.2",
"protein_id": "XP_016867580.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 433,
"cds_start": 932,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Tyr288Cys",
"transcript": "XM_047420288.1",
"protein_id": "XP_047276244.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 410,
"cds_start": 863,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Tyr259Cys",
"transcript": "XM_047420289.1",
"protein_id": "XP_047276245.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 381,
"cds_start": 776,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1478,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.*853A>G",
"hgvs_p": null,
"transcript": "ENST00000430730.5",
"protein_id": "ENSP00000411859.1",
"transcript_support_level": 5,
"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": 1859,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.*966A>G",
"hgvs_p": null,
"transcript": "ENST00000447929.5",
"protein_id": "ENSP00000411262.1",
"transcript_support_level": 3,
"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": 1983,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.624A>G",
"hgvs_p": null,
"transcript": "ENST00000462371.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 820,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.1976A>G",
"hgvs_p": null,
"transcript": "ENST00000466883.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2555,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.1531A>G",
"hgvs_p": null,
"transcript": "NR_120531.2",
"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": 2114,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.*853A>G",
"hgvs_p": null,
"transcript": "ENST00000430730.5",
"protein_id": "ENSP00000411859.1",
"transcript_support_level": 5,
"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": 1859,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.*966A>G",
"hgvs_p": null,
"transcript": "ENST00000447929.5",
"protein_id": "ENSP00000411262.1",
"transcript_support_level": 3,
"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": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"dbsnp": "rs786205674",
"frequency_reference_population": 6.847749e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84775e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9341225028038025,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.808,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2389,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000304895.9",
"gene_symbol": "GUSB",
"hgnc_id": 4696,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Tyr529Cys"
}
],
"clinvar_disease": "Non-immune hydrops fetalis,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Non-immune hydrops fetalis|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}