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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: 1-48759110-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=48759110&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 48759110,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024603.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Pro179Ser",
"transcript": "NM_024603.4",
"protein_id": "NP_078879.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 421,
"cds_start": 535,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": "ENST00000371833.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024603.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Pro179Ser",
"transcript": "ENST00000371833.4",
"protein_id": "ENSP00000360899.3",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 421,
"cds_start": 535,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": "NM_024603.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371833.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-95869C>T",
"hgvs_p": null,
"transcript": "NM_032785.4",
"protein_id": "NP_116174.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "ENST00000371839.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032785.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-95869C>T",
"hgvs_p": null,
"transcript": "ENST00000371839.6",
"protein_id": "ENSP00000360905.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "NM_032785.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371839.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.170-95869C>T",
"hgvs_p": null,
"transcript": "ENST00000416121.5",
"protein_id": "ENSP00000401622.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416121.5"
},
{
"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": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "n.718C>T",
"hgvs_p": null,
"transcript": "ENST00000463562.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463562.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Pro178Ser",
"transcript": "ENST00000936956.1",
"protein_id": "ENSP00000607015.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 420,
"cds_start": 532,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936956.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Pro94Ser",
"transcript": "NM_001349795.2",
"protein_id": "NP_001336724.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 336,
"cds_start": 280,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349795.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "NM_001302082.2",
"protein_id": "NP_001289011.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 252,
"cds_start": 28,
"cds_end": null,
"cds_length": 759,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302082.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "NM_001349793.2",
"protein_id": "NP_001336722.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 252,
"cds_start": 28,
"cds_end": null,
"cds_length": 759,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349793.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "NM_001349794.2",
"protein_id": "NP_001336723.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 252,
"cds_start": 28,
"cds_end": null,
"cds_length": 759,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349794.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Pro125Ser",
"transcript": "XM_047430497.1",
"protein_id": "XP_047286453.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 367,
"cds_start": 373,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430497.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Pro94Ser",
"transcript": "XM_011542141.4",
"protein_id": "XP_011540443.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 336,
"cds_start": 280,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542141.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Pro94Ser",
"transcript": "XM_047430505.1",
"protein_id": "XP_047286461.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 336,
"cds_start": 280,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430505.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Pro179Ser",
"transcript": "XM_017002333.3",
"protein_id": "XP_016857822.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 273,
"cds_start": 535,
"cds_end": null,
"cds_length": 822,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002333.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Pro179Ser",
"transcript": "XM_047430520.1",
"protein_id": "XP_047286476.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 257,
"cds_start": 535,
"cds_end": null,
"cds_length": 774,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430520.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.671-95869C>T",
"hgvs_p": null,
"transcript": "NM_001323574.2",
"protein_id": "NP_001310503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": null,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323574.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.671-95869C>T",
"hgvs_p": null,
"transcript": "NM_001323573.2",
"protein_id": "NP_001310502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323573.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-95869C>T",
"hgvs_p": null,
"transcript": "NM_001323575.2",
"protein_id": "NP_001310504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323575.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-95869C>T",
"hgvs_p": null,
"transcript": "ENST00000371838.5",
"protein_id": "ENSP00000360904.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371838.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.671-95869C>T",
"hgvs_p": null,
"transcript": "XM_011542308.3",
"protein_id": "XP_011540610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542308.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-95869C>T",
"hgvs_p": null,
"transcript": "XM_017002595.3",
"protein_id": "XP_016858084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": null,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002595.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-95869C>T",
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"transcript": "XM_017002596.3",
"protein_id": "XP_016858085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002596.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "n.146C>T",
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"transcript": "ENST00000476096.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 527,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476096.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "n.677C>T",
"hgvs_p": null,
"transcript": "NR_146232.2",
"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": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146232.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "n.668-69207C>T",
"hgvs_p": null,
"transcript": "NR_136623.2",
"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": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136623.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "n.-177C>T",
"hgvs_p": null,
"transcript": "ENST00000476079.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 425,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476079.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "n.*97C>T",
"hgvs_p": null,
"transcript": "ENST00000480399.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480399.1"
}
],
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"dbsnp": "rs1320535739",
"frequency_reference_population": 6.850629e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85063e-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": 0.6930614709854126,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.461,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5909,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.395,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024603.4",
"gene_symbol": "BEND5",
"hgnc_id": 25668,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Pro179Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001323574.2",
"gene_symbol": "AGBL4",
"hgnc_id": 25892,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.671-95869C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}