← 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: 11-57485138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57485138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 57485138,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003627.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "NM_003627.6",
"protein_id": "NP_003618.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278426.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003627.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "ENST00000278426.8",
"protein_id": "ENSP00000278426.3",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003627.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278426.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "ENST00000528450.5",
"protein_id": "ENSP00000435673.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528450.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1740G>A",
"hgvs_p": "p.Met580Ile",
"transcript": "ENST00000901382.1",
"protein_id": "ENSP00000571441.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 593,
"cds_start": 1740,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901382.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1740G>A",
"hgvs_p": "p.Met580Ile",
"transcript": "ENST00000901385.1",
"protein_id": "ENSP00000571444.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 593,
"cds_start": 1740,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901385.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1740G>A",
"hgvs_p": "p.Met580Ile",
"transcript": "ENST00000967928.1",
"protein_id": "ENSP00000637987.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 593,
"cds_start": 1740,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967928.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1677G>A",
"hgvs_p": "p.Met559Ile",
"transcript": "ENST00000967929.1",
"protein_id": "ENSP00000637988.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 572,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967929.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "NM_001198810.2",
"protein_id": "NP_001185739.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198810.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "ENST00000901383.1",
"protein_id": "ENSP00000571442.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901383.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "ENST00000901388.1",
"protein_id": "ENSP00000571447.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901388.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "ENST00000901389.1",
"protein_id": "ENSP00000571448.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901389.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "ENST00000930672.1",
"protein_id": "ENSP00000600731.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930672.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "ENST00000930673.1",
"protein_id": "ENSP00000600732.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930673.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile",
"transcript": "ENST00000967930.1",
"protein_id": "ENSP00000637989.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 559,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967930.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1611G>A",
"hgvs_p": "p.Met537Ile",
"transcript": "ENST00000930670.1",
"protein_id": "ENSP00000600729.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 550,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930670.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1608G>A",
"hgvs_p": "p.Met536Ile",
"transcript": "ENST00000901381.1",
"protein_id": "ENSP00000571440.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 549,
"cds_start": 1608,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901381.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1602G>A",
"hgvs_p": "p.Met534Ile",
"transcript": "ENST00000901378.1",
"protein_id": "ENSP00000571437.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 547,
"cds_start": 1602,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901378.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1602G>A",
"hgvs_p": "p.Met534Ile",
"transcript": "ENST00000901387.1",
"protein_id": "ENSP00000571446.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 547,
"cds_start": 1602,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901387.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Met515Ile",
"transcript": "ENST00000901380.1",
"protein_id": "ENSP00000571439.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 528,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901380.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Met515Ile",
"transcript": "ENST00000901386.1",
"protein_id": "ENSP00000571445.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 528,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901386.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Met515Ile",
"transcript": "ENST00000930674.1",
"protein_id": "ENSP00000600733.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 528,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930674.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Met515Ile",
"transcript": "ENST00000930675.1",
"protein_id": "ENSP00000600734.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 528,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930675.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1509G>A",
"hgvs_p": "p.Met503Ile",
"transcript": "ENST00000930669.1",
"protein_id": "ENSP00000600728.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 516,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930669.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1422G>A",
"hgvs_p": "p.Met474Ile",
"transcript": "ENST00000901379.1",
"protein_id": "ENSP00000571438.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 487,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901379.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1422G>A",
"hgvs_p": "p.Met474Ile",
"transcript": "ENST00000901384.1",
"protein_id": "ENSP00000571443.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 487,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901384.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Met473Ile",
"transcript": "ENST00000967931.1",
"protein_id": "ENSP00000637990.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 486,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967931.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1407G>A",
"hgvs_p": "p.Met469Ile",
"transcript": "ENST00000930667.1",
"protein_id": "ENSP00000600726.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 482,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930667.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1329G>A",
"hgvs_p": "p.Met443Ile",
"transcript": "ENST00000967927.1",
"protein_id": "ENSP00000637986.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 456,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967927.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "ENST00000930671.1",
"protein_id": "ENSP00000600730.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 269,
"cds_start": 768,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930671.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "ENST00000930677.1",
"protein_id": "ENSP00000600736.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 269,
"cds_start": 768,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930677.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Met190Ile",
"transcript": "ENST00000930668.1",
"protein_id": "ENSP00000600727.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 203,
"cds_start": 570,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930668.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Met190Ile",
"transcript": "ENST00000930676.1",
"protein_id": "ENSP00000600735.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 203,
"cds_start": 570,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930676.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1686G>A",
"hgvs_p": "p.Met562Ile",
"transcript": "XM_005274358.6",
"protein_id": "XP_005274415.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 575,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274358.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Met531Ile",
"transcript": "XM_011545320.4",
"protein_id": "XP_011543622.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 544,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545320.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Met515Ile",
"transcript": "XM_017018452.2",
"protein_id": "XP_016873941.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 528,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018452.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Met515Ile",
"transcript": "XM_047427777.1",
"protein_id": "XP_047283733.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 528,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427777.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"hgvs_c": "c.1416G>A",
"hgvs_p": "p.Met472Ile",
"transcript": "XM_024448727.2",
"protein_id": "XP_024304495.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 485,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448727.2"
}
],
"gene_symbol": "SLC43A1",
"gene_hgnc_id": 9225,
"dbsnp": "rs764311022",
"frequency_reference_population": 0.000040272866,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000430961,
"gnomad_genomes_af": 0.0000131456,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05204203724861145,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.0995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.044,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003627.6",
"gene_symbol": "SLC43A1",
"hgnc_id": 9225,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Met546Ile"
}
],
"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
}