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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: 6-100864129-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=100864129&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 100864129,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006828.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "NM_006828.4",
"protein_id": "NP_006819.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2202,
"cds_start": 176,
"cds_end": null,
"cds_length": 6609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369162.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006828.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "ENST00000369162.7",
"protein_id": "ENSP00000358159.2",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 2202,
"cds_start": 176,
"cds_end": null,
"cds_length": 6609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006828.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369162.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "ENST00000522650.5",
"protein_id": "ENSP00000430769.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 731,
"cds_start": 176,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522650.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "ENST00000369143.2",
"protein_id": "ENSP00000358139.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 111,
"cds_start": 176,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369143.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Glu64Gly",
"transcript": "ENST00000930696.1",
"protein_id": "ENSP00000600755.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 2207,
"cds_start": 191,
"cds_end": null,
"cds_length": 6624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930696.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Glu64Gly",
"transcript": "ENST00000930699.1",
"protein_id": "ENSP00000600758.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 2207,
"cds_start": 191,
"cds_end": null,
"cds_length": 6624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930699.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "ENST00000930695.1",
"protein_id": "ENSP00000600754.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2200,
"cds_start": 176,
"cds_end": null,
"cds_length": 6603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930695.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "ENST00000930697.1",
"protein_id": "ENSP00000600756.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2199,
"cds_start": 176,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930697.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "ENST00000930698.1",
"protein_id": "ENSP00000600757.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2147,
"cds_start": 176,
"cds_end": null,
"cds_length": 6444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930698.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "ENST00000930700.1",
"protein_id": "ENSP00000600759.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2004,
"cds_start": 176,
"cds_end": null,
"cds_length": 6015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930700.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "NM_001284271.2",
"protein_id": "NP_001271200.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 731,
"cds_start": 176,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284271.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "ENST00000324723.10",
"protein_id": "ENSP00000320777.6",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 175,
"cds_start": 176,
"cds_end": null,
"cds_length": 529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324723.10"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly",
"transcript": "NM_022091.5",
"protein_id": "NP_071374.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 111,
"cds_start": 176,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022091.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Glu64Gly",
"transcript": "XM_011535394.4",
"protein_id": "XP_011533696.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 2207,
"cds_start": 191,
"cds_end": null,
"cds_length": 6624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535394.4"
},
{
"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": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "c.-54+3779A>G",
"hgvs_p": null,
"transcript": "XM_047418108.1",
"protein_id": "XP_047274064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2104,
"cds_start": null,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "n.458A>G",
"hgvs_p": null,
"transcript": "ENST00000468245.2",
"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": "retained_intron",
"feature": "ENST00000468245.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"hgvs_c": "n.90+3779A>G",
"hgvs_p": null,
"transcript": "ENST00000324696.8",
"protein_id": "ENSP00000320252.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000324696.8"
}
],
"gene_symbol": "ASCC3",
"gene_hgnc_id": 18697,
"dbsnp": "rs757903799",
"frequency_reference_population": 0.00001743664,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000171987,
"gnomad_genomes_af": 0.0000197094,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23827308416366577,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.0689,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.306,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006828.4",
"gene_symbol": "ASCC3",
"hgnc_id": 18697,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Glu59Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}