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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-14844570-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=14844570&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 14844570,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000650831.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "NM_001018113.3",
"protein_id": "NP_001018123.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": "ENST00000650831.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000650831.1",
"protein_id": "ENSP00000498215.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": "NM_001018113.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000324138.7",
"protein_id": "ENSP00000326819.3",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000452869.2",
"protein_id": "ENSP00000397849.2",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 832,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2559,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "NM_001410764.1",
"protein_id": "NP_001397693.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 929,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000696353.1",
"protein_id": "ENSP00000512574.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 929,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2559,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000696354.1",
"protein_id": "ENSP00000512575.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 880,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000696311.1",
"protein_id": "ENSP00000512549.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 864,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "NM_001324162.2",
"protein_id": "NP_001311091.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "NM_152633.4",
"protein_id": "NP_689846.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000696312.1",
"protein_id": "ENSP00000512550.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000696356.1",
"protein_id": "ENSP00000512577.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "ENST00000696357.1",
"protein_id": "ENSP00000512578.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "XM_047441920.1",
"protein_id": "XP_047297876.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 6315,
"cdna_end": null,
"cdna_length": 6959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "XM_047441921.1",
"protein_id": "XP_047297877.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 6126,
"cdna_end": null,
"cdna_length": 6770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "XM_017029356.2",
"protein_id": "XP_016884845.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 832,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "XM_047441922.1",
"protein_id": "XP_047297878.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 832,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "XM_047441923.1",
"protein_id": "XP_047297879.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 832,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Phe700Leu",
"transcript": "XM_047441924.1",
"protein_id": "XP_047297880.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 832,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 6126,
"cdna_end": null,
"cdna_length": 9032,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1177T>C",
"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,
"cdna_end": null,
"cdna_length": 3128,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1090T>C",
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*843T>C",
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
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"phylop100way_prediction": "Benign",
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Fanconi anemia|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}