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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: 4-95125083-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=95125083&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 95125083,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001256793.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "NM_001203.3",
"protein_id": "NP_001194.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000515059.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001203.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000515059.6",
"protein_id": "ENSP00000426617.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001203.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515059.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000394931.1",
"protein_id": "ENSP00000378389.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394931.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000512312.5",
"protein_id": "ENSP00000425444.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512312.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000873516.1",
"protein_id": "ENSP00000543575.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 534,
"cds_start": 547,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873516.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.637T>A",
"hgvs_p": "p.Ser213Thr",
"transcript": "NM_001256793.2",
"protein_id": "NP_001243722.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 532,
"cds_start": 637,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256793.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.637T>A",
"hgvs_p": "p.Ser213Thr",
"transcript": "ENST00000440890.7",
"protein_id": "ENSP00000401907.2",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 532,
"cds_start": 637,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440890.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "NM_001256792.2",
"protein_id": "NP_001243721.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256792.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "NM_001256794.1",
"protein_id": "NP_001243723.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256794.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000264568.8",
"protein_id": "ENSP00000264568.4",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264568.8"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000509540.6",
"protein_id": "ENSP00000421671.1",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509540.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000672698.1",
"protein_id": "ENSP00000500035.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672698.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000873512.1",
"protein_id": "ENSP00000543571.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873512.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000873513.1",
"protein_id": "ENSP00000543572.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873513.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000873514.1",
"protein_id": "ENSP00000543573.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873514.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000873515.1",
"protein_id": "ENSP00000543574.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873515.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "ENST00000873511.1",
"protein_id": "ENSP00000543570.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 500,
"cds_start": 547,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873511.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "XM_011532201.3",
"protein_id": "XP_011530503.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532201.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "XM_017008558.2",
"protein_id": "XP_016864047.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008558.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "XM_017008559.2",
"protein_id": "XP_016864048.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008559.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "XM_017008560.2",
"protein_id": "XP_016864049.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008560.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.547T>A",
"hgvs_p": "p.Ser183Thr",
"transcript": "XM_047416091.1",
"protein_id": "XP_047272047.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 547,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38353317975997925,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.149,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256793.2",
"gene_symbol": "BMPR1B",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.637T>A",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}