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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: 4-108033239-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=108033239&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HADH",
"hgnc_id": 4799,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Pro275Leu",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001184705.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9396,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "4",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 4, familial,Hyperinsulinemic hypoglycemia",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9894689321517944,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 314,
"aa_ref": "P",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 817,
"cds_end": null,
"cds_length": 945,
"cds_start": 773,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_005327.7",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Pro258Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309522.8",
"protein_coding": true,
"protein_id": "NP_005318.6",
"strand": true,
"transcript": "NM_005327.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 314,
"aa_ref": "P",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 817,
"cds_end": null,
"cds_length": 945,
"cds_start": 773,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000309522.8",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Pro258Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005327.7",
"protein_coding": true,
"protein_id": "ENSP00000312288.4",
"strand": true,
"transcript": "ENST00000309522.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "P",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1173,
"cds_start": 1001,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000505878.4",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425952.2",
"strand": true,
"transcript": "ENST00000505878.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 331,
"aa_ref": "P",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 996,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000603302.5",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Pro275Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474560.1",
"strand": true,
"transcript": "ENST00000603302.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 344,
"aa_ref": "P",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1035,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945001.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Pro288Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615060.1",
"strand": true,
"transcript": "ENST00000945001.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 343,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1032,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945000.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.860C>T",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615059.1",
"strand": true,
"transcript": "ENST00000945000.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 331,
"aa_ref": "P",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 868,
"cds_end": null,
"cds_length": 996,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001184705.4",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Pro275Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171634.3",
"strand": true,
"transcript": "NM_001184705.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "P",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 948,
"cds_end": null,
"cds_length": 957,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001331027.2",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317956.2",
"strand": true,
"transcript": "NM_001331027.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "P",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 957,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000626637.2",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486771.1",
"strand": true,
"transcript": "ENST00000626637.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "P",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 819,
"cds_end": null,
"cds_length": 954,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000403312.6",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Pro261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385638.3",
"strand": true,
"transcript": "ENST00000403312.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 312,
"aa_ref": "P",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 905,
"cds_end": null,
"cds_length": 939,
"cds_start": 767,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944999.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Pro256Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615058.1",
"strand": true,
"transcript": "ENST00000944999.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "P",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": 773,
"cds_end": null,
"cds_length": 864,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000923930.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Pro231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593989.1",
"strand": true,
"transcript": "ENST00000923930.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 284,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 691,
"cds_end": null,
"cds_length": 855,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000876844.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546903.1",
"strand": true,
"transcript": "ENST00000876844.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1369,
"cdna_start": 631,
"cds_end": null,
"cds_length": 801,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000638559.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490998.1",
"strand": true,
"transcript": "ENST00000638559.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 257,
"aa_ref": "P",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1684,
"cdna_start": 698,
"cds_end": null,
"cds_length": 774,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923928.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Pro201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593987.1",
"strand": true,
"transcript": "ENST00000923928.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "P",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1317,
"cdna_start": 432,
"cds_end": null,
"cds_length": 603,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682373.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Pro144Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508283.1",
"strand": true,
"transcript": "ENST00000682373.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 176,
"aa_ref": "P",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 741,
"cdna_start": 438,
"cds_end": null,
"cds_length": 531,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638621.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Pro120Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491581.1",
"strand": true,
"transcript": "ENST00000638621.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 146,
"aa_ref": "P",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 669,
"cdna_start": 362,
"cds_end": null,
"cds_length": 441,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923929.1",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Pro90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593988.1",
"strand": true,
"transcript": "ENST00000923929.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000507260.3",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "n.5292C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000507260.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000510728.6",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "n.1892C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000510728.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000514776.3",
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"hgvs_c": "n.5621C>T",
"hgvs_p": null,
"intron_rank": null,
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"custom_annotations": null,
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"dbscsnv_ada_score": null,
"dbsnp": "rs137853103",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4799,
"gene_symbol": "HADH",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Hyperinsulinemic hypoglycemia, familial, 4",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 108033239,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.96,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001184705.4"
}
]
}