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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: 15-59668962-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=59668962&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 59668962,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320674.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "NM_004330.4",
"protein_id": "NP_004321.3",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 314,
"cds_start": 823,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000607373.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004330.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "ENST00000607373.6",
"protein_id": "ENSP00000475320.1",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 314,
"cds_start": 823,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004330.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607373.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "NM_001320674.2",
"protein_id": "NP_001307603.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 326,
"cds_start": 823,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320674.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "ENST00000439052.6",
"protein_id": "ENSP00000393644.2",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 326,
"cds_start": 823,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439052.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "ENST00000897502.1",
"protein_id": "ENSP00000567561.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 326,
"cds_start": 823,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897502.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Val281Met",
"transcript": "ENST00000897499.1",
"protein_id": "ENSP00000567558.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 320,
"cds_start": 841,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897499.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "NM_001320675.4",
"protein_id": "NP_001307604.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 314,
"cds_start": 823,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320675.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met",
"transcript": "ENST00000415213.7",
"protein_id": "ENSP00000412767.3",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 314,
"cds_start": 823,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415213.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Met",
"transcript": "ENST00000921900.1",
"protein_id": "ENSP00000591959.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 311,
"cds_start": 814,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921900.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Val257Met",
"transcript": "ENST00000897501.1",
"protein_id": "ENSP00000567560.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 308,
"cds_start": 769,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897501.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Val246Met",
"transcript": "ENST00000921901.1",
"protein_id": "ENSP00000591960.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 736,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921901.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Met",
"transcript": "NM_001368057.1",
"protein_id": "NP_001354986.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 282,
"cds_start": 691,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368057.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Met",
"transcript": "ENST00000897496.1",
"protein_id": "ENSP00000567555.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 282,
"cds_start": 691,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897496.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Val237Met",
"transcript": "ENST00000921902.1",
"protein_id": "ENSP00000591961.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 276,
"cds_start": 709,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921902.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Val222Met",
"transcript": "NM_001368058.1",
"protein_id": "NP_001354987.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 273,
"cds_start": 664,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368058.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Met",
"transcript": "NM_001368059.1",
"protein_id": "NP_001354988.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 270,
"cds_start": 691,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368059.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Met",
"transcript": "ENST00000897497.1",
"protein_id": "ENSP00000567556.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 270,
"cds_start": 691,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897497.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Val222Met",
"transcript": "NM_001368060.1",
"protein_id": "NP_001354989.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 261,
"cds_start": 664,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368060.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Val216Met",
"transcript": "ENST00000897498.1",
"protein_id": "ENSP00000567557.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 255,
"cds_start": 646,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897498.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Met",
"transcript": "ENST00000950838.1",
"protein_id": "ENSP00000620897.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 223,
"cds_start": 514,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950838.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Met",
"transcript": "ENST00000950840.1",
"protein_id": "ENSP00000620899.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 211,
"cds_start": 514,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950840.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.794+314G>A",
"hgvs_p": null,
"transcript": "ENST00000950839.1",
"protein_id": "ENSP00000620898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950839.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.707+2221G>A",
"hgvs_p": null,
"transcript": "NM_001368061.1",
"protein_id": "NP_001354990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368061.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "c.707+2221G>A",
"hgvs_p": null,
"transcript": "ENST00000897500.1",
"protein_id": "ENSP00000567559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897500.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "n.116G>A",
"hgvs_p": null,
"transcript": "ENST00000560776.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000560776.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227161",
"gene_hgnc_id": null,
"hgvs_c": "n.68+3273G>A",
"hgvs_p": null,
"transcript": "ENST00000441746.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000441746.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNIP2",
"gene_hgnc_id": 1083,
"hgvs_c": "n.-13G>A",
"hgvs_p": null,
"transcript": "ENST00000478981.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478981.1"
}
],
"gene_symbol": "BNIP2",
"gene_hgnc_id": 1083,
"dbsnp": "rs375444414",
"frequency_reference_population": 0.0000055787727,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000479072,
"gnomad_genomes_af": 0.0000131492,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7707804441452026,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.424,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8981,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.565,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320674.2",
"gene_symbol": "BNIP2",
"hgnc_id": 1083,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Met"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441746.1",
"gene_symbol": "ENSG00000227161",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.68+3273G>A",
"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
}