← 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: 4-3447925-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=3447925&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 3447925,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001297439.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509His",
"transcript": "NM_001528.4",
"protein_id": "NP_001519.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 655,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382774.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001528.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509His",
"transcript": "ENST00000382774.8",
"protein_id": "ENSP00000372224.4",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 655,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001528.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382774.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Arg516His",
"transcript": "ENST00000511533.1",
"protein_id": "ENSP00000421801.1",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 662,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511533.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569His",
"transcript": "ENST00000882393.1",
"protein_id": "ENSP00000552452.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 715,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882393.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543His",
"transcript": "ENST00000882390.1",
"protein_id": "ENSP00000552449.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 689,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882390.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542His",
"transcript": "ENST00000882397.1",
"protein_id": "ENSP00000552456.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 688,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882397.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Arg535His",
"transcript": "ENST00000882396.1",
"protein_id": "ENSP00000552455.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 681,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882396.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530His",
"transcript": "ENST00000882382.1",
"protein_id": "ENSP00000552441.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 676,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882382.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526His",
"transcript": "ENST00000882383.1",
"protein_id": "ENSP00000552442.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 672,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882383.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Arg521His",
"transcript": "ENST00000882394.1",
"protein_id": "ENSP00000552453.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 667,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882394.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Arg519His",
"transcript": "ENST00000882398.1",
"protein_id": "ENSP00000552457.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 665,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882398.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Arg516His",
"transcript": "NM_001297439.2",
"protein_id": "NP_001284368.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 662,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297439.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512His",
"transcript": "ENST00000882400.1",
"protein_id": "ENSP00000552459.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 658,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882400.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1517G>A",
"hgvs_p": "p.Arg506His",
"transcript": "ENST00000882384.1",
"protein_id": "ENSP00000552443.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 652,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882384.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498His",
"transcript": "ENST00000882385.1",
"protein_id": "ENSP00000552444.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 644,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882385.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493His",
"transcript": "ENST00000882392.1",
"protein_id": "ENSP00000552451.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 639,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882392.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1463G>A",
"hgvs_p": "p.Arg488His",
"transcript": "ENST00000882391.1",
"protein_id": "ENSP00000552450.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 634,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882391.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481His",
"transcript": "ENST00000882381.1",
"protein_id": "ENSP00000552440.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 627,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882381.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456His",
"transcript": "ENST00000882395.1",
"protein_id": "ENSP00000552454.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 602,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882395.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450His",
"transcript": "ENST00000882387.1",
"protein_id": "ENSP00000552446.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 596,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882387.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "ENST00000882388.1",
"protein_id": "ENSP00000552447.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 586,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882388.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "ENST00000882389.1",
"protein_id": "ENSP00000552448.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 574,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882389.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His",
"transcript": "ENST00000882386.1",
"protein_id": "ENSP00000552445.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 568,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882386.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000882401.1",
"protein_id": "ENSP00000552460.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 549,
"cds_start": 1208,
"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": "ENST00000882401.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388His",
"transcript": "ENST00000943280.1",
"protein_id": "ENSP00000613339.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 534,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943280.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Arg375His",
"transcript": "ENST00000882402.1",
"protein_id": "ENSP00000552461.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 521,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882402.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000882399.1",
"protein_id": "ENSP00000552458.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 462,
"cds_start": 947,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882399.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392His",
"transcript": "XM_047450155.1",
"protein_id": "XP_047306111.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 538,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450155.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "n.566G>A",
"hgvs_p": null,
"transcript": "ENST00000506132.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000506132.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"hgvs_c": "n.1436G>A",
"hgvs_p": null,
"transcript": "ENST00000509689.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000509689.5"
}
],
"gene_symbol": "HGFAC",
"gene_hgnc_id": 4894,
"dbsnp": "rs16844401",
"frequency_reference_population": 0.068640865,
"hom_count_reference_population": 4523,
"allele_count_reference_population": 110468,
"gnomad_exomes_af": 0.0698145,
"gnomad_genomes_af": 0.057413,
"gnomad_exomes_ac": 101724,
"gnomad_genomes_ac": 8744,
"gnomad_exomes_homalt": 4156,
"gnomad_genomes_homalt": 367,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002273738384246826,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.0882,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.588,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001297439.2",
"gene_symbol": "HGFAC",
"hgnc_id": 4894,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Arg516His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}