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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-14864627-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=14864627&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 14864627,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000650831.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "NM_001018113.3",
"protein_id": "NP_001018123.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": "ENST00000650831.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000650831.1",
"protein_id": "ENSP00000498215.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": "NM_001018113.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000324138.7",
"protein_id": "ENSP00000326819.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000452869.2",
"protein_id": "ENSP00000397849.2",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 832,
"cds_start": 884,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "NM_001410764.1",
"protein_id": "NP_001397693.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 929,
"cds_start": 884,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000696353.1",
"protein_id": "ENSP00000512574.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 929,
"cds_start": 884,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000696354.1",
"protein_id": "ENSP00000512575.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 880,
"cds_start": 884,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000696311.1",
"protein_id": "ENSP00000512549.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 864,
"cds_start": 884,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "NM_001324162.2",
"protein_id": "NP_001311091.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "NM_152633.4",
"protein_id": "NP_689846.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000696312.1",
"protein_id": "ENSP00000512550.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000696356.1",
"protein_id": "ENSP00000512577.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "ENST00000696357.1",
"protein_id": "ENSP00000512578.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "XM_047441920.1",
"protein_id": "XP_047297876.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
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"cdna_start": 5101,
"cdna_end": null,
"cdna_length": 6959,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "XM_047441921.1",
"protein_id": "XP_047297877.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 859,
"cds_start": 884,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 4912,
"cdna_end": null,
"cdna_length": 6770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "XM_017029356.2",
"protein_id": "XP_016884845.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 832,
"cds_start": 884,
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"cdna_start": 1159,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "XM_047441922.1",
"protein_id": "XP_047297878.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 832,
"cds_start": 884,
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"cds_length": 2499,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "XM_047441923.1",
"protein_id": "XP_047297879.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 832,
"cds_start": 884,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Glu",
"transcript": "XM_047441924.1",
"protein_id": "XP_047297880.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 832,
"cds_start": 884,
"cds_end": null,
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"cdna_start": 4912,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.884G>A",
"hgvs_p": null,
"transcript": "ENST00000643728.2",
"protein_id": "ENSP00000495047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3128,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.884G>A",
"hgvs_p": null,
"transcript": "ENST00000646255.1",
"protein_id": "ENSP00000494963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.146G>A",
"hgvs_p": null,
"transcript": "ENST00000696322.1",
"protein_id": "ENSP00000512559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.1149G>A",
"hgvs_p": null,
"transcript": "ENST00000696323.1",
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"bayesdelnoaf_prediction": "Benign",
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{
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"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group B",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group B",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}