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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: 16-69109875-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69109875&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69109875,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005329.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "NM_001199280.2",
"protein_id": "NP_001186209.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": "ENST00000569188.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199280.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000569188.6",
"protein_id": "ENSP00000454731.1",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": "NM_001199280.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569188.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000306560.1",
"protein_id": "ENSP00000304440.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306560.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000219322.7",
"protein_id": "ENSP00000219322.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 281,
"cds_start": 480,
"cds_end": null,
"cds_length": 846,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219322.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "NM_005329.3",
"protein_id": "NP_005320.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005329.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000851819.1",
"protein_id": "ENSP00000521878.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851819.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000851820.1",
"protein_id": "ENSP00000521879.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851820.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000911949.1",
"protein_id": "ENSP00000582008.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 3638,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911949.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000911950.1",
"protein_id": "ENSP00000582009.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 4575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911950.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000911951.1",
"protein_id": "ENSP00000582010.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911951.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000911952.1",
"protein_id": "ENSP00000582011.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911952.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000911953.1",
"protein_id": "ENSP00000582012.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911953.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "NM_138612.3",
"protein_id": "NP_619515.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 281,
"cds_start": 480,
"cds_end": null,
"cds_length": 846,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138612.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "ENST00000566118.5",
"protein_id": "ENSP00000456246.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 263,
"cds_start": 480,
"cds_end": null,
"cds_length": 793,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566118.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "XM_005255921.3",
"protein_id": "XP_005255978.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255921.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "XM_011523061.3",
"protein_id": "XP_011521363.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523061.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "XM_047434045.1",
"protein_id": "XP_047290001.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434045.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "XM_047434046.1",
"protein_id": "XP_047290002.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434046.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "HAS3",
"gene_hgnc_id": 4820,
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp",
"transcript": "XM_047434047.1",
"protein_id": "XP_047290003.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 553,
"cds_start": 480,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434047.1"
}
],
"gene_symbol": "HAS3",
"gene_hgnc_id": 4820,
"dbsnp": "rs1367570383",
"frequency_reference_population": 0.0000030983542,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000020527,
"gnomad_genomes_af": 0.0000131347,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1064625084400177,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0748,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.24,
"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": 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_005329.3",
"gene_symbol": "HAS3",
"hgnc_id": 4820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.480G>C",
"hgvs_p": "p.Glu160Asp"
}
],
"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
}