← 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: 3-158602808-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=158602808&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 158602808,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001369783.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Ser205Ser",
"transcript": "NM_001369783.1",
"protein_id": "NP_001356712.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 283,
"cds_start": 615,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000466246.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369783.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Ser205Ser",
"transcript": "ENST00000466246.7",
"protein_id": "ENSP00000417278.2",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 283,
"cds_start": 615,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001369783.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466246.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.570T>C",
"hgvs_p": "p.Ser190Ser",
"transcript": "ENST00000355893.11",
"protein_id": "ENSP00000348157.5",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 268,
"cds_start": 570,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355893.11"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "ENST00000359117.9",
"protein_id": "ENSP00000352025.5",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359117.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "ENST00000484955.5",
"protein_id": "ENSP00000417835.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484955.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.366T>C",
"hgvs_p": "p.Ser122Ser",
"transcript": "ENST00000469452.5",
"protein_id": "ENSP00000418595.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 200,
"cds_start": 366,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469452.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ser116Ser",
"transcript": "ENST00000491767.6",
"protein_id": "ENSP00000420410.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 194,
"cds_start": 348,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491767.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "n.761T>C",
"hgvs_p": null,
"transcript": "ENST00000497004.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497004.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.570T>C",
"hgvs_p": "p.Ser190Ser",
"transcript": "NM_022443.5",
"protein_id": "NP_071888.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 268,
"cds_start": 570,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022443.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.570T>C",
"hgvs_p": "p.Ser190Ser",
"transcript": "NM_001378845.1",
"protein_id": "NP_001365774.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 261,
"cds_start": 570,
"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_001378845.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "NM_001195432.4",
"protein_id": "NP_001182361.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 258,
"cds_start": 540,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195432.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "NM_001195434.2",
"protein_id": "NP_001182363.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 258,
"cds_start": 540,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195434.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "NM_001369785.1",
"protein_id": "NP_001356714.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 258,
"cds_start": 540,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369785.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "NM_001378846.1",
"protein_id": "NP_001365775.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 258,
"cds_start": 540,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378846.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "ENST00000471745.5",
"protein_id": "ENSP00000420134.1",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 258,
"cds_start": 540,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471745.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "ENST00000477042.6",
"protein_id": "ENSP00000419637.2",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 258,
"cds_start": 540,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477042.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "ENST00000478894.7",
"protein_id": "ENSP00000417777.4",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 258,
"cds_start": 540,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478894.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001130156.3",
"protein_id": "NP_001123628.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130156.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001130157.3",
"protein_id": "NP_001123629.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130157.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001369784.1",
"protein_id": "NP_001356713.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369784.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001378847.1",
"protein_id": "NP_001365776.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378847.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001378848.1",
"protein_id": "NP_001365777.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378848.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001378850.1",
"protein_id": "NP_001365779.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378850.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "ENST00000482628.5",
"protein_id": "ENSP00000417141.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482628.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "ENST00000651874.1",
"protein_id": "ENSP00000498363.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651874.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "ENST00000651984.1",
"protein_id": "ENSP00000499162.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 243,
"cds_start": 495,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651984.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.486T>C",
"hgvs_p": "p.Ser162Ser",
"transcript": "NM_001378851.1",
"protein_id": "NP_001365780.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 240,
"cds_start": 486,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378851.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.486T>C",
"hgvs_p": "p.Ser162Ser",
"transcript": "ENST00000498592.6",
"protein_id": "ENSP00000419636.2",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 240,
"cds_start": 486,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498592.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.435T>C",
"hgvs_p": "p.Ser145Ser",
"transcript": "NM_001369781.1",
"protein_id": "NP_001356710.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 223,
"cds_start": 435,
"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": "NM_001369781.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.435T>C",
"hgvs_p": "p.Ser145Ser",
"transcript": "ENST00000619577.5",
"protein_id": "ENSP00000483337.2",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 223,
"cds_start": 435,
"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": "ENST00000619577.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001378853.1",
"protein_id": "NP_001365782.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 215,
"cds_start": 495,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378853.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.366T>C",
"hgvs_p": "p.Ser122Ser",
"transcript": "NM_001195433.2",
"protein_id": "NP_001182362.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 200,
"cds_start": 366,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195433.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.366T>C",
"hgvs_p": "p.Ser122Ser",
"transcript": "ENST00000618075.4",
"protein_id": "ENSP00000484169.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 200,
"cds_start": 366,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618075.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ser116Ser",
"transcript": "NM_001369782.1",
"protein_id": "NP_001356711.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 194,
"cds_start": 348,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.569-2289T>C",
"hgvs_p": null,
"transcript": "NM_001378852.1",
"protein_id": "NP_001365781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.569-2289T>C",
"hgvs_p": null,
"transcript": "ENST00000650753.1",
"protein_id": "ENSP00000498915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650753.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "c.494-2289T>C",
"hgvs_p": null,
"transcript": "NM_001378855.1",
"protein_id": "NP_001365784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "n.*438T>C",
"hgvs_p": null,
"transcript": "ENST00000650750.1",
"protein_id": "ENSP00000498835.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "n.*236T>C",
"hgvs_p": null,
"transcript": "ENST00000652045.1",
"protein_id": "ENSP00000499194.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000652045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "n.*438T>C",
"hgvs_p": null,
"transcript": "ENST00000650750.1",
"protein_id": "ENSP00000498835.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"hgvs_c": "n.*236T>C",
"hgvs_p": null,
"transcript": "ENST00000652045.1",
"protein_id": "ENSP00000499194.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000652045.1"
}
],
"gene_symbol": "MLF1",
"gene_hgnc_id": 7125,
"dbsnp": "rs4875",
"frequency_reference_population": 0.537004,
"hom_count_reference_population": 235459,
"allele_count_reference_population": 864918,
"gnomad_exomes_af": 0.532967,
"gnomad_genomes_af": 0.575757,
"gnomad_exomes_ac": 777426,
"gnomad_genomes_ac": 87492,
"gnomad_exomes_homalt": 209488,
"gnomad_genomes_homalt": 25971,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.573,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0042976291447741,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001369783.1",
"gene_symbol": "MLF1",
"hgnc_id": 7125,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Ser205Ser"
}
],
"clinvar_disease": "MLF1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "MLF1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}