← 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: 16-15599021-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15599021&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15599021,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014647.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4817C>T",
"hgvs_p": "p.Pro1606Leu",
"transcript": "NM_014647.4",
"protein_id": "NP_055462.2",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4817,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5012,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": "ENST00000396368.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4817C>T",
"hgvs_p": "p.Pro1606Leu",
"transcript": "ENST00000396368.8",
"protein_id": "ENSP00000379654.3",
"transcript_support_level": 1,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4817,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5012,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": "NM_014647.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4817C>T",
"hgvs_p": "p.Pro1606Leu",
"transcript": "ENST00000551742.5",
"protein_id": "ENSP00000450309.1",
"transcript_support_level": 1,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4817,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 4966,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4808C>T",
"hgvs_p": "p.Pro1603Leu",
"transcript": "ENST00000548025.5",
"protein_id": "ENSP00000449376.1",
"transcript_support_level": 1,
"aa_start": 1603,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4808,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 4957,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4817C>T",
"hgvs_p": "p.Pro1606Leu",
"transcript": "NM_001184998.2",
"protein_id": "NP_001171927.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4817,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5012,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4808C>T",
"hgvs_p": "p.Pro1603Leu",
"transcript": "NM_001184999.2",
"protein_id": "NP_001171928.1",
"transcript_support_level": null,
"aa_start": 1603,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4808,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 5003,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4322C>T",
"hgvs_p": "p.Pro1441Leu",
"transcript": "ENST00000540441.6",
"protein_id": "ENSP00000439819.2",
"transcript_support_level": 5,
"aa_start": 1441,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4322,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4387,
"cdna_end": null,
"cdna_length": 7105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4820C>T",
"hgvs_p": "p.Pro1607Leu",
"transcript": "XM_005255704.2",
"protein_id": "XP_005255761.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4820,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5015,
"cdna_end": null,
"cdna_length": 7733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4820C>T",
"hgvs_p": "p.Pro1607Leu",
"transcript": "XM_017023900.3",
"protein_id": "XP_016879389.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4820,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5042,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4817C>T",
"hgvs_p": "p.Pro1606Leu",
"transcript": "XM_017023901.3",
"protein_id": "XP_016879390.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4817,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5039,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4817C>T",
"hgvs_p": "p.Pro1606Leu",
"transcript": "XM_047434938.1",
"protein_id": "XP_047290894.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4817,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5039,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4814C>T",
"hgvs_p": "p.Pro1605Leu",
"transcript": "XM_005255706.3",
"protein_id": "XP_005255763.1",
"transcript_support_level": null,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4814,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 5009,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4814C>T",
"hgvs_p": "p.Pro1605Leu",
"transcript": "XM_047434939.1",
"protein_id": "XP_047290895.1",
"transcript_support_level": null,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4814,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 5036,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4790C>T",
"hgvs_p": "p.Pro1597Leu",
"transcript": "XM_005255707.3",
"protein_id": "XP_005255764.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 4985,
"cdna_end": null,
"cdna_length": 7703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4790C>T",
"hgvs_p": "p.Pro1597Leu",
"transcript": "XM_047434940.1",
"protein_id": "XP_047290896.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 5012,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4787C>T",
"hgvs_p": "p.Pro1596Leu",
"transcript": "XM_047434941.1",
"protein_id": "XP_047290897.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4787,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 4982,
"cdna_end": null,
"cdna_length": 7700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4787C>T",
"hgvs_p": "p.Pro1596Leu",
"transcript": "XM_047434942.1",
"protein_id": "XP_047290898.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4787,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5009,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4658C>T",
"hgvs_p": "p.Pro1553Leu",
"transcript": "XM_017023902.3",
"protein_id": "XP_016879391.1",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4658,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4853,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4655C>T",
"hgvs_p": "p.Pro1552Leu",
"transcript": "XM_047434943.1",
"protein_id": "XP_047290899.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4655,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 4850,
"cdna_end": null,
"cdna_length": 7568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4655C>T",
"hgvs_p": "p.Pro1552Leu",
"transcript": "XM_047434944.1",
"protein_id": "XP_047290900.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4655,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 4877,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4391C>T",
"hgvs_p": "p.Pro1464Leu",
"transcript": "XM_017023903.3",
"protein_id": "XP_016879392.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1600,
"cds_start": 4391,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 4586,
"cdna_end": null,
"cdna_length": 7304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4388C>T",
"hgvs_p": "p.Pro1463Leu",
"transcript": "XM_017023904.3",
"protein_id": "XP_016879393.1",
"transcript_support_level": null,
"aa_start": 1463,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4388,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 4583,
"cdna_end": null,
"cdna_length": 7301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4361C>T",
"hgvs_p": "p.Pro1454Leu",
"transcript": "XM_047434945.1",
"protein_id": "XP_047290901.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4361,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 4556,
"cdna_end": null,
"cdna_length": 7274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4283C>T",
"hgvs_p": "p.Pro1428Leu",
"transcript": "XM_017023905.3",
"protein_id": "XP_016879394.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4283,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 4478,
"cdna_end": null,
"cdna_length": 7196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4280C>T",
"hgvs_p": "p.Pro1427Leu",
"transcript": "XM_017023906.3",
"protein_id": "XP_016879395.1",
"transcript_support_level": null,
"aa_start": 1427,
"aa_end": null,
"aa_length": 1563,
"cds_start": 4280,
"cds_end": null,
"cds_length": 4692,
"cdna_start": 4475,
"cdna_end": null,
"cdna_length": 7193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4280C>T",
"hgvs_p": "p.Pro1427Leu",
"transcript": "XM_047434946.1",
"protein_id": "XP_047290902.1",
"transcript_support_level": null,
"aa_start": 1427,
"aa_end": null,
"aa_length": 1563,
"cds_start": 4280,
"cds_end": null,
"cds_length": 4692,
"cdna_start": 4475,
"cdna_end": null,
"cdna_length": 7193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4280C>T",
"hgvs_p": "p.Pro1427Leu",
"transcript": "XM_047434947.1",
"protein_id": "XP_047290903.1",
"transcript_support_level": null,
"aa_start": 1427,
"aa_end": null,
"aa_length": 1563,
"cds_start": 4280,
"cds_end": null,
"cds_length": 4692,
"cdna_start": 4502,
"cdna_end": null,
"cdna_length": 7220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4277C>T",
"hgvs_p": "p.Pro1426Leu",
"transcript": "XM_047434948.1",
"protein_id": "XP_047290904.1",
"transcript_support_level": null,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4277,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 4472,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4253C>T",
"hgvs_p": "p.Pro1418Leu",
"transcript": "XM_047434949.1",
"protein_id": "XP_047290905.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4665,
"cdna_start": 4448,
"cdna_end": null,
"cdna_length": 7166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4250C>T",
"hgvs_p": "p.Pro1417Leu",
"transcript": "XM_047434950.1",
"protein_id": "XP_047290906.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1553,
"cds_start": 4250,
"cds_end": null,
"cds_length": 4662,
"cdna_start": 4445,
"cdna_end": null,
"cdna_length": 7163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4229C>T",
"hgvs_p": "p.Pro1410Leu",
"transcript": "XM_047434951.1",
"protein_id": "XP_047290907.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1546,
"cds_start": 4229,
"cds_end": null,
"cds_length": 4641,
"cdna_start": 4424,
"cdna_end": null,
"cdna_length": 7142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4121C>T",
"hgvs_p": "p.Pro1374Leu",
"transcript": "XM_047434953.1",
"protein_id": "XP_047290909.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 4316,
"cdna_end": null,
"cdna_length": 7034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.3854C>T",
"hgvs_p": "p.Pro1285Leu",
"transcript": "XM_047434954.1",
"protein_id": "XP_047290910.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1421,
"cds_start": 3854,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 4049,
"cdna_end": null,
"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.3824C>T",
"hgvs_p": "p.Pro1275Leu",
"transcript": "XM_047434955.1",
"protein_id": "XP_047290911.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3824,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4019,
"cdna_end": null,
"cdna_length": 6737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "n.469C>T",
"hgvs_p": null,
"transcript": "ENST00000549337.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "n.151C>T",
"hgvs_p": null,
"transcript": "ENST00000551579.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "n.*71C>T",
"hgvs_p": null,
"transcript": "ENST00000551878.1",
"protein_id": "ENSP00000449050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "n.*1527C>T",
"hgvs_p": null,
"transcript": "ENST00000552553.5",
"protein_id": "ENSP00000449329.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "n.1440C>T",
"hgvs_p": null,
"transcript": "ENST00000552771.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "n.*71C>T",
"hgvs_p": null,
"transcript": "ENST00000551878.1",
"protein_id": "ENSP00000449050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "n.*1527C>T",
"hgvs_p": null,
"transcript": "ENST00000552553.5",
"protein_id": "ENSP00000449329.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BMERB1",
"gene_hgnc_id": 19213,
"hgvs_c": "c.*12+7906G>A",
"hgvs_p": null,
"transcript": "ENST00000565857.1",
"protein_id": "ENSP00000456084.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"dbsnp": "rs750235252",
"frequency_reference_population": 0.000002752963,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000275296,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09018129110336304,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0702,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.991,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_014647.4",
"gene_symbol": "MARF1",
"hgnc_id": 29562,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4817C>T",
"hgvs_p": "p.Pro1606Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000565857.1",
"gene_symbol": "BMERB1",
"hgnc_id": 19213,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*12+7906G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}