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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: 17-63910212-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63910212&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63910212,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022579.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.421G>T",
"hgvs_p": "p.Asp141Tyr",
"transcript": "NM_022579.3",
"protein_id": "NP_072101.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 222,
"cds_start": 421,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309894.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022579.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.421G>T",
"hgvs_p": "p.Asp141Tyr",
"transcript": "ENST00000309894.6",
"protein_id": "ENSP00000309524.5",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 222,
"cds_start": 421,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022579.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309894.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Asp79Tyr",
"transcript": "ENST00000259003.14",
"protein_id": "ENSP00000259003.10",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 160,
"cds_start": 235,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259003.14"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Asp47Tyr",
"transcript": "ENST00000346606.10",
"protein_id": "ENSP00000316360.10",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 128,
"cds_start": 139,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346606.10"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Asp118Tyr",
"transcript": "NM_022581.3",
"protein_id": "NP_072103.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 199,
"cds_start": 352,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022581.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Asp102Tyr",
"transcript": "NM_001321069.2",
"protein_id": "NP_001307998.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 183,
"cds_start": 304,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321069.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.172G>T",
"hgvs_p": "p.Asp58Tyr",
"transcript": "ENST00000561003.5",
"protein_id": "ENSP00000452900.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561003.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Asp47Tyr",
"transcript": "ENST00000450719.3",
"protein_id": "ENSP00000413501.3",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 167,
"cds_start": 139,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450719.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Asp81Tyr",
"transcript": "NM_001321067.2",
"protein_id": "NP_001307996.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 162,
"cds_start": 241,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321067.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Asp79Tyr",
"transcript": "NM_001321068.2",
"protein_id": "NP_001307997.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 160,
"cds_start": 235,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321068.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.172G>T",
"hgvs_p": "p.Asp58Tyr",
"transcript": "NM_022580.3",
"protein_id": "NP_072102.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 139,
"cds_start": 172,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022580.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.172G>T",
"hgvs_p": "p.Asp58Tyr",
"transcript": "ENST00000438387.6",
"protein_id": "ENSP00000402632.2",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 139,
"cds_start": 172,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438387.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Asp47Tyr",
"transcript": "NM_001318.4",
"protein_id": "NP_001309.3",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 128,
"cds_start": 139,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.421G>T",
"hgvs_p": "p.Asp141Tyr",
"transcript": "XM_011524344.2",
"protein_id": "XP_011522646.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 261,
"cds_start": 421,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524344.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Asp81Tyr",
"transcript": "XM_011524346.3",
"protein_id": "XP_011522648.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 201,
"cds_start": 241,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524346.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "n.995G>T",
"hgvs_p": null,
"transcript": "ENST00000558099.1",
"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": "pseudogene",
"feature": "ENST00000558099.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "n.774G>T",
"hgvs_p": null,
"transcript": "ENST00000558609.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000558609.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"hgvs_c": "n.1023G>T",
"hgvs_p": null,
"transcript": "ENST00000560999.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000560999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303015",
"gene_hgnc_id": null,
"hgvs_c": "n.266-7248C>A",
"hgvs_p": null,
"transcript": "ENST00000791137.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000791137.1"
}
],
"gene_symbol": "CSHL1",
"gene_hgnc_id": 2442,
"dbsnp": "rs752149521",
"frequency_reference_population": 0.000026642048,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.000027362,
"gnomad_genomes_af": 0.0000197228,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23588520288467407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.43,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.76,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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_022579.3",
"gene_symbol": "CSHL1",
"hgnc_id": 2442,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.421G>T",
"hgvs_p": "p.Asp141Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000791137.1",
"gene_symbol": "ENSG00000303015",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.266-7248C>A",
"hgvs_p": null
}
],
"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
}