← 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: 3-10286769-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10286769&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 10286769,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016362.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "NM_016362.5",
"protein_id": "NP_057446.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335542.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016362.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "ENST00000335542.13",
"protein_id": "ENSP00000335074.8",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016362.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335542.13"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "ENST00000429122.1",
"protein_id": "ENSP00000414819.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429122.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "ENST00000457360.5",
"protein_id": "ENSP00000391406.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457360.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.266A>T",
"hgvs_p": "p.Gln89Leu",
"transcript": "ENST00000287656.11",
"protein_id": "ENSP00000287656.7",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 116,
"cds_start": 266,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287656.11"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.266A>T",
"hgvs_p": "p.Gln89Leu",
"transcript": "ENST00000430179.5",
"protein_id": "ENSP00000399922.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 116,
"cds_start": 266,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430179.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Gln78Leu",
"transcript": "ENST00000437422.6",
"protein_id": "ENSP00000416768.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 105,
"cds_start": 233,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437422.6"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.230A>T",
"hgvs_p": "p.Gln77Leu",
"transcript": "ENST00000449238.6",
"protein_id": "ENSP00000388145.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 104,
"cds_start": 230,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449238.6"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.116A>T",
"hgvs_p": "p.Gln39Leu",
"transcript": "ENST00000439975.6",
"protein_id": "ENSP00000403725.2",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 66,
"cds_start": 116,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439975.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.226-875A>T",
"hgvs_p": null,
"transcript": "ENST00000422159.5",
"protein_id": "ENSP00000405464.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": null,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422159.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.73-875A>T",
"hgvs_p": null,
"transcript": "ENST00000446937.2",
"protein_id": "ENSP00000394923.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446937.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.389A>T",
"hgvs_p": null,
"transcript": "ENST00000475759.5",
"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": "ENST00000475759.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.581A>T",
"hgvs_p": null,
"transcript": "ENST00000476283.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476283.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.446A>T",
"hgvs_p": null,
"transcript": "ENST00000481287.5",
"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": "retained_intron",
"feature": "ENST00000481287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.101-645T>A",
"hgvs_p": null,
"transcript": "ENST00000439539.3",
"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": "ENST00000439539.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.101-645T>A",
"hgvs_p": null,
"transcript": "ENST00000605014.5",
"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": "ENST00000605014.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.100+916T>A",
"hgvs_p": null,
"transcript": "ENST00000605105.5",
"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": "ENST00000605105.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "NM_001302821.2",
"protein_id": "NP_001289750.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302821.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "NM_001302822.2",
"protein_id": "NP_001289751.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302822.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "NM_001302824.2",
"protein_id": "NP_001289753.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302824.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "NM_001302825.2",
"protein_id": "NP_001289754.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302825.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "ENST00000910666.1",
"protein_id": "ENSP00000580725.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910666.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "ENST00000910668.1",
"protein_id": "ENSP00000580727.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910668.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "ENST00000910670.1",
"protein_id": "ENSP00000580728.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910670.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu",
"transcript": "ENST00000910671.1",
"protein_id": "ENSP00000580730.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 269,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910671.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.266A>T",
"hgvs_p": "p.Gln89Leu",
"transcript": "NM_001134941.3",
"protein_id": "NP_001128413.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 116,
"cds_start": 266,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134941.3"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.266A>T",
"hgvs_p": "p.Gln89Leu",
"transcript": "NM_001302823.2",
"protein_id": "NP_001289752.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 116,
"cds_start": 266,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302823.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Gln78Leu",
"transcript": "NM_001134944.2",
"protein_id": "NP_001128416.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 105,
"cds_start": 233,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134944.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.230A>T",
"hgvs_p": "p.Gln77Leu",
"transcript": "NM_001134945.2",
"protein_id": "NP_001128417.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 104,
"cds_start": 230,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134945.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.116A>T",
"hgvs_p": "p.Gln39Leu",
"transcript": "NM_001134946.2",
"protein_id": "NP_001128418.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 66,
"cds_start": 116,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134946.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.360A>T",
"hgvs_p": null,
"transcript": "ENST00000491589.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000491589.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.158-645T>A",
"hgvs_p": null,
"transcript": "NR_004431.3",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_004431.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.241-645T>A",
"hgvs_p": null,
"transcript": "NR_024144.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_024144.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.397+916T>A",
"hgvs_p": null,
"transcript": "NR_024145.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_024145.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.337-645T>A",
"hgvs_p": null,
"transcript": "NR_073566.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_073566.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.241-519T>A",
"hgvs_p": null,
"transcript": "NR_073567.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_073567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.241-645T>A",
"hgvs_p": null,
"transcript": "NR_073568.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_073568.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.107-875A>T",
"hgvs_p": null,
"transcript": "NR_126505.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_126505.2"
}
],
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"dbsnp": "rs4684677",
"frequency_reference_population": 0.06964626,
"hom_count_reference_population": 6949,
"allele_count_reference_population": 112311,
"gnomad_exomes_af": 0.0699642,
"gnomad_genomes_af": 0.0665975,
"gnomad_exomes_ac": 102169,
"gnomad_genomes_ac": 10142,
"gnomad_exomes_homalt": 6222,
"gnomad_genomes_homalt": 727,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001843184232711792,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.174,
"revel_prediction": "Benign",
"alphamissense_score": 0.2955,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.093,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016362.5",
"gene_symbol": "GHRL",
"hgnc_id": 18129,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Gln90Leu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000439539.3",
"gene_symbol": "GHRLOS",
"hgnc_id": 33885,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.101-645T>A",
"hgvs_p": null
}
],
"clinvar_disease": "Obesity,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Obesity|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}