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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: 9-91220918-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=91220918&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AUH",
"hgnc_id": 890,
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Asp244Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001698.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 919,
"alphamissense_prediction": null,
"alphamissense_score": 0.1573,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "3-methylglutaconic aciduria type 1,AUH-related disorder,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10519200563430786,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 339,
"aa_ref": "D",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1020,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001698.3",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Asp244Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375731.9",
"protein_coding": true,
"protein_id": "NP_001689.1",
"strand": false,
"transcript": "NM_001698.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 339,
"aa_ref": "D",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1020,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000375731.9",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Asp244Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001698.3",
"protein_coding": true,
"protein_id": "ENSP00000364883.5",
"strand": false,
"transcript": "ENST00000375731.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 310,
"aa_ref": "D",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 667,
"cds_end": null,
"cds_length": 933,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000303617.5",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Asp215Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307334.5",
"strand": false,
"transcript": "ENST00000303617.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 349,
"aa_ref": "D",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1050,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895926.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Asp254Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565985.1",
"strand": false,
"transcript": "ENST00000895926.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 322,
"aa_ref": "D",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 737,
"cds_end": null,
"cds_length": 969,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895928.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Asp244Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565987.1",
"strand": false,
"transcript": "ENST00000895928.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 320,
"aa_ref": "D",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 706,
"cds_end": null,
"cds_length": 963,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968996.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639055.1",
"strand": false,
"transcript": "ENST00000968996.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 310,
"aa_ref": "D",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 672,
"cds_end": null,
"cds_length": 933,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001306190.2",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Asp215Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293119.1",
"strand": false,
"transcript": "NM_001306190.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 308,
"aa_ref": "D",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 688,
"cds_end": null,
"cds_length": 927,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895923.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Asp213Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565982.1",
"strand": false,
"transcript": "ENST00000895923.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 306,
"aa_ref": "D",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 802,
"cds_end": null,
"cds_length": 921,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895919.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Asp244Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565978.1",
"strand": false,
"transcript": "ENST00000895919.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 289,
"aa_ref": "D",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": 634,
"cds_end": null,
"cds_length": 870,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895922.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Asp194Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565981.1",
"strand": false,
"transcript": "ENST00000895922.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 287,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 642,
"cds_end": null,
"cds_length": 864,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895920.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Asp192Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565979.1",
"strand": false,
"transcript": "ENST00000895920.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 277,
"aa_ref": "D",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 650,
"cds_end": null,
"cds_length": 834,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895927.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Asp215Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565986.1",
"strand": false,
"transcript": "ENST00000895927.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": 544,
"cds_end": null,
"cds_length": 783,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895921.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Asp165Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565980.1",
"strand": false,
"transcript": "ENST00000895921.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 258,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1326,
"cdna_start": 520,
"cds_end": null,
"cds_length": 777,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895924.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565983.1",
"strand": false,
"transcript": "ENST00000895924.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 230,
"aa_ref": "D",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 829,
"cds_end": null,
"cds_length": 693,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001351431.2",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Asp135Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338360.1",
"strand": false,
"transcript": "NM_001351431.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 230,
"aa_ref": "D",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 921,
"cds_end": null,
"cds_length": 693,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001351432.2",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Asp135Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338361.1",
"strand": false,
"transcript": "NM_001351432.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 227,
"aa_ref": "D",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": 500,
"cds_end": null,
"cds_length": 684,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000968997.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Asp165Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639056.1",
"strand": false,
"transcript": "ENST00000968997.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 214,
"aa_ref": "D",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 829,
"cds_end": null,
"cds_length": 645,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001351433.2",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Asp135Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338362.1",
"strand": false,
"transcript": "NM_001351433.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 208,
"aa_ref": "D",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1169,
"cdna_start": 363,
"cds_end": null,
"cds_length": 627,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000895925.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Asp113Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565984.1",
"strand": false,
"transcript": "ENST00000895925.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 175,
"aa_ref": "D",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": 375,
"cds_end": null,
"cds_length": 528,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000968995.1",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Asp113Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639054.1",
"strand": false,
"transcript": "ENST00000968995.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 349,
"aa_ref": "D",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1604,
"cdna_start": 789,
"cds_end": null,
"cds_length": 1050,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005252066.4",
"gene_hgnc_id": 890,
"gene_symbol": "AUH",
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Asp254Asn",
"intron_rank": null,
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