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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: 19-47477746-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47477746&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 47477746,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000338134.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "NM_007059.4",
"protein_id": "NP_008990.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 436,
"cds_start": 823,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": "ENST00000338134.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "ENST00000338134.8",
"protein_id": "ENSP00000337850.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 436,
"cds_start": 823,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": "NM_007059.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001291296.2",
"protein_id": "NP_001278225.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 380,
"cds_start": 655,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "ENST00000595554.1",
"protein_id": "ENSP00000469446.1",
"transcript_support_level": 3,
"aa_start": 219,
"aa_end": null,
"aa_length": 262,
"cds_start": 655,
"cds_end": null,
"cds_length": 790,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Val35Met",
"transcript": "ENST00000600271.5",
"protein_id": "ENSP00000472291.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 41,
"cds_start": 103,
"cds_end": null,
"cds_length": 128,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Val359Met",
"transcript": "XM_017026227.2",
"protein_id": "XP_016881716.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 559,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Val359Met",
"transcript": "XM_017026228.2",
"protein_id": "XP_016881717.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 520,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "XM_024451333.2",
"protein_id": "XP_024307101.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 475,
"cds_start": 823,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1753,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "n.*457G>A",
"hgvs_p": null,
"transcript": "ENST00000594208.5",
"protein_id": "ENSP00000470364.1",
"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": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287896",
"gene_hgnc_id": null,
"hgvs_c": "n.1353C>T",
"hgvs_p": null,
"transcript": "ENST00000669287.1",
"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": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287896",
"gene_hgnc_id": null,
"hgvs_c": "n.1444C>T",
"hgvs_p": null,
"transcript": "ENST00000746654.1",
"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": 1778,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "n.969G>A",
"hgvs_p": null,
"transcript": "NR_111923.2",
"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": 1723,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"hgvs_c": "n.*457G>A",
"hgvs_p": null,
"transcript": "ENST00000594208.5",
"protein_id": "ENSP00000470364.1",
"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": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KPTN",
"gene_hgnc_id": 6404,
"dbsnp": "rs373073023",
"frequency_reference_population": 0.00007250616,
"hom_count_reference_population": 0,
"allele_count_reference_population": 117,
"gnomad_exomes_af": 0.0000780028,
"gnomad_genomes_af": 0.0000197148,
"gnomad_exomes_ac": 114,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19144761562347412,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.2287,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.711,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": "ENST00000338134.8",
"gene_symbol": "KPTN",
"hgnc_id": 6404,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000669287.1",
"gene_symbol": "ENSG00000287896",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1353C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}