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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: 9-93077980-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=93077980&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 93077980,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145006.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Trp",
"transcript": "NM_145006.4",
"protein_id": "NP_659443.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 255,
"cds_start": 412,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375472.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145006.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Trp",
"transcript": "ENST00000375472.8",
"protein_id": "ENSP00000364621.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 255,
"cds_start": 412,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145006.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375472.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "NM_001287005.2",
"protein_id": "NP_001273934.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 242,
"cds_start": 373,
"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_001287005.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "ENST00000375469.5",
"protein_id": "ENSP00000364618.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 242,
"cds_start": 373,
"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": "ENST00000375469.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Arg114Trp",
"transcript": "ENST00000913799.1",
"protein_id": "ENSP00000583858.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 231,
"cds_start": 340,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913799.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Trp",
"transcript": "NM_001287006.2",
"protein_id": "NP_001273935.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 211,
"cds_start": 412,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287006.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Trp",
"transcript": "ENST00000617293.4",
"protein_id": "ENSP00000479555.1",
"transcript_support_level": 3,
"aa_start": 138,
"aa_end": null,
"aa_length": 211,
"cds_start": 412,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617293.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Trp",
"transcript": "NM_001287008.2",
"protein_id": "NP_001273937.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 192,
"cds_start": 223,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287008.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000465709.5",
"protein_id": "ENSP00000475051.1",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 153,
"cds_start": 187,
"cds_end": null,
"cds_length": 463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465709.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Trp",
"transcript": "NM_001287007.2",
"protein_id": "NP_001273936.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 148,
"cds_start": 223,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287007.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Trp",
"transcript": "ENST00000471462.2",
"protein_id": "ENSP00000474695.1",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 118,
"cds_start": 133,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471462.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_011518358.2",
"protein_id": "XP_011516660.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 242,
"cds_start": 373,
"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": "XM_011518358.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_011518359.2",
"protein_id": "XP_011516661.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 242,
"cds_start": 373,
"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": "XM_011518359.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_017014450.2",
"protein_id": "XP_016869939.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 242,
"cds_start": 373,
"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": "XM_017014450.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_047422941.1",
"protein_id": "XP_047278897.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 242,
"cds_start": 373,
"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": "XM_047422941.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_047422942.1",
"protein_id": "XP_047278898.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 242,
"cds_start": 373,
"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": "XM_047422942.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "XM_047422943.1",
"protein_id": "XP_047278899.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 242,
"cds_start": 373,
"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": "XM_047422943.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Trp",
"transcript": "XM_017014451.3",
"protein_id": "XP_016869940.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 233,
"cds_start": 346,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014451.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"transcript": "XM_011518362.2",
"protein_id": "XP_011516664.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 198,
"cds_start": 241,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518362.2"
}
],
"gene_symbol": "SUSD3",
"gene_hgnc_id": 28391,
"dbsnp": "rs980367427",
"frequency_reference_population": 0.000009912068,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000889285,
"gnomad_genomes_af": 0.000019692,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5833494067192078,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.203,
"revel_prediction": "Benign",
"alphamissense_score": 0.1056,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.433,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145006.4",
"gene_symbol": "SUSD3",
"hgnc_id": 28391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Trp"
}
],
"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
}