← Back to variant description
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: 2-42256546-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=42256546&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 42256546,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410776.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "NM_019063.5",
"protein_id": "NP_061936.3",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 981,
"cds_start": 254,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": "ENST00000318522.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019063.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000318522.10",
"protein_id": "ENSP00000320663.5",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 981,
"cds_start": 254,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": "NM_019063.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318522.10"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000402711.6",
"protein_id": "ENSP00000385059.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 923,
"cds_start": 254,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402711.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "n.485A>T",
"hgvs_p": null,
"transcript": "ENST00000409040.1",
"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": 962,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000409040.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.308A>T",
"hgvs_p": "p.Asn103Ile",
"transcript": "ENST00000862357.1",
"protein_id": "ENSP00000532416.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 999,
"cds_start": 308,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862357.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "NM_001410776.1",
"protein_id": "NP_001397705.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 992,
"cds_start": 254,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410776.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000401738.3",
"protein_id": "ENSP00000384939.3",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 992,
"cds_start": 254,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401738.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000921472.1",
"protein_id": "ENSP00000591531.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 980,
"cds_start": 254,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921472.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000921469.1",
"protein_id": "ENSP00000591528.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 974,
"cds_start": 254,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 5525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921469.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000862356.1",
"protein_id": "ENSP00000532415.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 963,
"cds_start": 254,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 5509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862356.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000963713.1",
"protein_id": "ENSP00000633772.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 963,
"cds_start": 254,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 5415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963713.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.308A>T",
"hgvs_p": "p.Asn103Ile",
"transcript": "ENST00000921468.1",
"protein_id": "ENSP00000591527.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 941,
"cds_start": 308,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 5438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921468.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000921470.1",
"protein_id": "ENSP00000591529.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 934,
"cds_start": 254,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 5402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921470.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "NM_001145076.3",
"protein_id": "NP_001138548.2",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 923,
"cds_start": 254,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 5372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145076.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000963712.1",
"protein_id": "ENSP00000633771.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 912,
"cds_start": 254,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963712.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000921467.1",
"protein_id": "ENSP00000591526.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 905,
"cds_start": 254,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 5341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921467.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000921475.1",
"protein_id": "ENSP00000591534.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 905,
"cds_start": 254,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921475.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000921474.1",
"protein_id": "ENSP00000591533.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 896,
"cds_start": 254,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921474.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000921473.1",
"protein_id": "ENSP00000591532.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 843,
"cds_start": 254,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 5123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921473.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "ENST00000921471.1",
"protein_id": "ENSP00000591530.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 254,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921471.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "XM_006711991.2",
"protein_id": "XP_006712054.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 934,
"cds_start": 254,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711991.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.17A>T",
"hgvs_p": "p.Asn6Ile",
"transcript": "XM_006711992.3",
"protein_id": "XP_006712055.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 913,
"cds_start": 17,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711992.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.17A>T",
"hgvs_p": "p.Asn6Ile",
"transcript": "XM_047443953.1",
"protein_id": "XP_047299909.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 913,
"cds_start": 17,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 6011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443953.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.17A>T",
"hgvs_p": "p.Asn6Ile",
"transcript": "XM_047443954.1",
"protein_id": "XP_047299910.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 913,
"cds_start": 17,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 18151,
"cdna_end": null,
"cdna_length": 23217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443954.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile",
"transcript": "XM_005264268.4",
"protein_id": "XP_005264325.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 762,
"cds_start": 254,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264268.4"
}
],
"gene_symbol": "EML4",
"gene_hgnc_id": 1316,
"dbsnp": "rs151065528",
"frequency_reference_population": 6.842004e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.842e-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": 0.7225823402404785,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.438,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4155,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.786,
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410776.1",
"gene_symbol": "EML4",
"hgnc_id": 1316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Asn85Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}