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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: 2-160195535-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=160195535&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 160195535,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000888.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "NM_000888.5",
"protein_id": "NP_000879.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 788,
"cds_start": 427,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283249.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000888.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000283249.7",
"protein_id": "ENSP00000283249.2",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 788,
"cds_start": 427,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000888.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283249.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000409872.1",
"protein_id": "ENSP00000386367.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 788,
"cds_start": 427,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409872.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000958494.1",
"protein_id": "ENSP00000628553.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 817,
"cds_start": 427,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958494.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000958490.1",
"protein_id": "ENSP00000628549.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 809,
"cds_start": 427,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958490.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "NM_001282353.2",
"protein_id": "NP_001269282.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 788,
"cds_start": 427,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282353.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000873501.1",
"protein_id": "ENSP00000543560.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 788,
"cds_start": 427,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873501.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000873502.1",
"protein_id": "ENSP00000543561.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 788,
"cds_start": 427,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873502.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000873503.1",
"protein_id": "ENSP00000543562.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 787,
"cds_start": 427,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873503.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000958493.1",
"protein_id": "ENSP00000628552.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 762,
"cds_start": 427,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958493.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Ala101Thr",
"transcript": "NM_001282388.2",
"protein_id": "NP_001269317.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 746,
"cds_start": 301,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282388.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Ala101Thr",
"transcript": "ENST00000428609.6",
"protein_id": "ENSP00000408024.2",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 746,
"cds_start": 301,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428609.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000958492.1",
"protein_id": "ENSP00000628551.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 724,
"cds_start": 427,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958492.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Ala70Thr",
"transcript": "NM_001282389.2",
"protein_id": "NP_001269318.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 715,
"cds_start": 208,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282389.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Ala48Thr",
"transcript": "NM_001282354.2",
"protein_id": "NP_001269283.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 693,
"cds_start": 142,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282354.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Ala48Thr",
"transcript": "ENST00000620391.4",
"protein_id": "ENSP00000481183.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 693,
"cds_start": 142,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620391.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Ala48Thr",
"transcript": "ENST00000958489.1",
"protein_id": "ENSP00000628548.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 692,
"cds_start": 142,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958489.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "NM_001282355.2",
"protein_id": "NP_001269284.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 681,
"cds_start": 427,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282355.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000409967.6",
"protein_id": "ENSP00000386828.2",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 681,
"cds_start": 427,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409967.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Ala5Thr",
"transcript": "NM_001282390.2",
"protein_id": "NP_001269319.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 650,
"cds_start": 13,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282390.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000958491.1",
"protein_id": "ENSP00000628550.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 541,
"cds_start": 427,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.*41G>A",
"hgvs_p": null,
"transcript": "ENST00000409583.5",
"protein_id": "ENSP00000386477.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409583.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.13G>A",
"hgvs_p": null,
"transcript": "ENST00000485635.2",
"protein_id": "ENSP00000520446.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000485635.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.*41G>A",
"hgvs_p": null,
"transcript": "ENST00000409583.5",
"protein_id": "ENSP00000386477.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409583.5"
},
{
"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": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.-131G>A",
"hgvs_p": null,
"transcript": "ENST00000652612.1",
"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": "retained_intron",
"feature": "ENST00000652612.1"
}
],
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"dbsnp": "rs140015315",
"frequency_reference_population": 0.00003655451,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000300998,
"gnomad_genomes_af": 0.000098539,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7943862080574036,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.736,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6354,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.1,
"phylop100way_prediction": "Uncertain_significance",
"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": "PP3,PP5",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000888.5",
"gene_symbol": "ITGB6",
"hgnc_id": 6161,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr"
}
],
"clinvar_disease": "Amelogenesis imperfecta type 1H",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Amelogenesis imperfecta type 1H",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}