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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: 3-169084974-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=169084974&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 169084974,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004991.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3655G>T",
"hgvs_p": "p.Val1219Leu",
"transcript": "NM_004991.4",
"protein_id": "NP_004982.2",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3655,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651503.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004991.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3655G>T",
"hgvs_p": "p.Val1219Leu",
"transcript": "ENST00000651503.2",
"protein_id": "ENSP00000498411.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3655,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004991.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651503.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3286G>T",
"hgvs_p": "p.Val1096Leu",
"transcript": "ENST00000264674.7",
"protein_id": "ENSP00000264674.3",
"transcript_support_level": 1,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3286,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264674.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3094G>T",
"hgvs_p": "p.Val1032Leu",
"transcript": "ENST00000433243.6",
"protein_id": "ENSP00000394302.2",
"transcript_support_level": 1,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433243.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3091G>T",
"hgvs_p": "p.Val1031Leu",
"transcript": "ENST00000628990.2",
"protein_id": "ENSP00000486104.1",
"transcript_support_level": 1,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628990.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3064G>T",
"hgvs_p": "p.Val1022Leu",
"transcript": "ENST00000464456.5",
"protein_id": "ENSP00000419770.1",
"transcript_support_level": 1,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464456.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.*105G>T",
"hgvs_p": null,
"transcript": "ENST00000460814.5",
"protein_id": "ENSP00000420466.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1003,
"cds_start": null,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460814.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3628G>T",
"hgvs_p": "p.Val1210Leu",
"transcript": "NM_001366466.2",
"protein_id": "NP_001353395.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366466.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3628G>T",
"hgvs_p": "p.Val1210Leu",
"transcript": "ENST00000494292.6",
"protein_id": "ENSP00000417899.1",
"transcript_support_level": 5,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494292.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3286G>T",
"hgvs_p": "p.Val1096Leu",
"transcript": "NM_001105077.4",
"protein_id": "NP_001098547.3",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3286,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105077.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3094G>T",
"hgvs_p": "p.Val1032Leu",
"transcript": "NM_001366467.2",
"protein_id": "NP_001353396.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366467.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3094G>T",
"hgvs_p": "p.Val1032Leu",
"transcript": "NM_001366468.2",
"protein_id": "NP_001353397.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366468.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3094G>T",
"hgvs_p": "p.Val1032Leu",
"transcript": "ENST00000472280.5",
"protein_id": "ENSP00000420048.1",
"transcript_support_level": 5,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472280.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3091G>T",
"hgvs_p": "p.Val1031Leu",
"transcript": "NM_001105078.4",
"protein_id": "NP_001098548.2",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105078.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3091G>T",
"hgvs_p": "p.Val1031Leu",
"transcript": "NM_001205194.2",
"protein_id": "NP_001192123.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205194.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3091G>T",
"hgvs_p": "p.Val1031Leu",
"transcript": "NM_001366469.2",
"protein_id": "NP_001353398.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366469.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3091G>T",
"hgvs_p": "p.Val1031Leu",
"transcript": "NM_005241.4",
"protein_id": "NP_005232.2",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005241.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3091G>T",
"hgvs_p": "p.Val1031Leu",
"transcript": "ENST00000468789.5",
"protein_id": "ENSP00000419995.1",
"transcript_support_level": 2,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468789.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3067G>T",
"hgvs_p": "p.Val1023Leu",
"transcript": "NM_001163999.2",
"protein_id": "NP_001157471.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1043,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163999.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3067G>T",
"hgvs_p": "p.Val1023Leu",
"transcript": "NM_001366470.2",
"protein_id": "NP_001353399.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1043,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366470.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3064G>T",
"hgvs_p": "p.Val1022Leu",
"transcript": "NM_001164000.2",
"protein_id": "NP_001157472.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164000.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.3064G>T",
"hgvs_p": "p.Val1022Leu",
"transcript": "NM_001366471.2",
"protein_id": "NP_001353400.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1042,
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"transcript": "XM_047447692.1",
"protein_id": "XP_047303648.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 727,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447692.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.2095G>T",
"hgvs_p": "p.Val699Leu",
"transcript": "XM_047447693.1",
"protein_id": "XP_047303649.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 719,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447693.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.2092G>T",
"hgvs_p": "p.Val698Leu",
"transcript": "XM_047447694.1",
"protein_id": "XP_047303650.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 718,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447694.1"
}
],
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"dbsnp": "rs200073118",
"frequency_reference_population": 6.840778e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84078e-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": 0.12717536091804504,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.1051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.888,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004991.4",
"gene_symbol": "MECOM",
"hgnc_id": 3498,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3655G>T",
"hgvs_p": "p.Val1219Leu"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}