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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: X-14859297-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=14859297&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCB",
"hgnc_id": 3583,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"inheritance_mode": "AR,XL",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001410764.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 686,
"alphamissense_prediction": null,
"alphamissense_score": 0.0888,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "X",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "FANCB-related disorder,Fanconi anemia,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:4 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.028166264295578003,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001018113.3",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000650831.1",
"protein_coding": true,
"protein_id": "NP_001018123.1",
"strand": false,
"transcript": "NM_001018113.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000650831.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001018113.3",
"protein_coding": true,
"protein_id": "ENSP00000498215.1",
"strand": false,
"transcript": "ENST00000650831.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2894,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000324138.7",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326819.3",
"strand": false,
"transcript": "ENST00000324138.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 832,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 2499,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000452869.2",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397849.2",
"strand": false,
"transcript": "ENST00000452869.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 929,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 2790,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410764.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397693.1",
"strand": false,
"transcript": "NM_001410764.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 929,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4472,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 2790,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696353.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512574.1",
"strand": false,
"transcript": "ENST00000696353.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 880,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 2643,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696354.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512575.1",
"strand": false,
"transcript": "ENST00000696354.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 864,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 2595,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696311.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512549.1",
"strand": false,
"transcript": "ENST00000696311.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324162.2",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311091.1",
"strand": false,
"transcript": "NM_001324162.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_152633.4",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689846.1",
"strand": false,
"transcript": "NM_152633.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6212,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696312.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512550.1",
"strand": false,
"transcript": "ENST00000696312.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696356.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512577.1",
"strand": false,
"transcript": "ENST00000696356.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696357.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512578.1",
"strand": false,
"transcript": "ENST00000696357.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 739,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 2220,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918434.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588493.1",
"strand": false,
"transcript": "ENST00000918434.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6959,
"cdna_start": 5206,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047441920.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297876.1",
"strand": false,
"transcript": "XM_047441920.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 859,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6770,
"cdna_start": 5017,
"cds_end": null,
"cds_length": 2580,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047441921.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297877.1",
"strand": false,
"transcript": "XM_047441921.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 832,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 2499,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017029356.2",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884845.1",
"strand": false,
"transcript": "XM_017029356.2",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 2499,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047441922.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297878.1",
"strand": false,
"transcript": "XM_047441922.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 832,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5158,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 2499,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047441923.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297879.1",
"strand": false,
"transcript": "XM_047441923.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 832,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9032,
"cdna_start": 5017,
"cds_end": null,
"cds_length": 2499,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047441924.1",
"gene_hgnc_id": 3583,
"gene_symbol": "FANCB",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Ile330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297880.1",
"strand": false,
"transcript": "XM_047441924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
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