← Back to variant description
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-14843919-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=14843919&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 14843919,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001410764.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "NM_001018113.3",
"protein_id": "NP_001018123.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650831.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018113.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000650831.1",
"protein_id": "ENSP00000498215.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018113.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650831.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000324138.7",
"protein_id": "ENSP00000326819.3",
"transcript_support_level": 1,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324138.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000452869.2",
"protein_id": "ENSP00000397849.2",
"transcript_support_level": 1,
"aa_start": 743,
"aa_end": null,
"aa_length": 832,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452869.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "NM_001410764.1",
"protein_id": "NP_001397693.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 929,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410764.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000696353.1",
"protein_id": "ENSP00000512574.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 929,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696353.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000696354.1",
"protein_id": "ENSP00000512575.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 880,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696354.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000696311.1",
"protein_id": "ENSP00000512549.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 864,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696311.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "NM_001324162.2",
"protein_id": "NP_001311091.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324162.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "NM_152633.4",
"protein_id": "NP_689846.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152633.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000696312.1",
"protein_id": "ENSP00000512550.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696312.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000696356.1",
"protein_id": "ENSP00000512577.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696356.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "ENST00000696357.1",
"protein_id": "ENSP00000512578.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696357.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.1868T>C",
"hgvs_p": "p.Phe623Ser",
"transcript": "ENST00000918434.1",
"protein_id": "ENSP00000588493.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 739,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918434.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "XM_047441920.1",
"protein_id": "XP_047297876.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441920.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "XM_047441921.1",
"protein_id": "XP_047297877.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 859,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441921.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "XM_017029356.2",
"protein_id": "XP_016884845.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 832,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029356.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "XM_047441922.1",
"protein_id": "XP_047297878.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 832,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441922.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "XM_047441923.1",
"protein_id": "XP_047297879.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 832,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441923.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.2228T>C",
"hgvs_p": "p.Phe743Ser",
"transcript": "XM_047441924.1",
"protein_id": "XP_047297880.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 832,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1307T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643728.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1220T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646255.1"
},
{
"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.*973T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696322.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.2228T>C",
"hgvs_p": null,
"transcript": "ENST00000696351.1",
"protein_id": "ENSP00000512572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696351.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.2228T>C",
"hgvs_p": null,
"transcript": "ENST00000696352.1",
"protein_id": "ENSP00000512573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696352.1"
},
{
"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.*258T>C",
"hgvs_p": null,
"transcript": "ENST00000696355.1",
"protein_id": "ENSP00000512576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696355.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.2503T>C",
"hgvs_p": null,
"transcript": "XR_001755672.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001755672.2"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.6445T>C",
"hgvs_p": null,
"transcript": "XR_001755673.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001755673.2"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.2382T>C",
"hgvs_p": null,
"transcript": "XR_001755674.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001755674.2"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.2482T>C",
"hgvs_p": null,
"transcript": "XR_007068184.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1307T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643728.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1220T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646255.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_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.*973T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696322.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_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.*258T>C",
"hgvs_p": null,
"transcript": "ENST00000696355.1",
"protein_id": "ENSP00000512576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696355.1"
}
],
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"dbsnp": "rs747865842",
"frequency_reference_population": 9.1843134e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.18431e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.048752933740615845,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0685,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.03,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001410764.1",
"gene_symbol": "FANCB",
"hgnc_id": 3583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,XL",
"hgvs_c": "c.2228T>C",
"hgvs_p": "p.Phe743Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}