← 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: 10-121593795-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=121593795&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 121593795,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000457416.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_000141.5",
"protein_id": "NP_000132.3",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 821,
"cds_start": 23,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": "ENST00000358487.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000358487.10",
"protein_id": "ENSP00000351276.6",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 821,
"cds_start": 23,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": "NM_000141.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000457416.7",
"protein_id": "ENSP00000410294.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 822,
"cds_start": 23,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000369056.5",
"protein_id": "ENSP00000358052.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 769,
"cds_start": 23,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 47,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000369058.7",
"protein_id": "ENSP00000358054.3",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 767,
"cds_start": 23,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000613048.4",
"protein_id": "ENSP00000484154.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 732,
"cds_start": 23,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000369061.8",
"protein_id": "ENSP00000358057.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 709,
"cds_start": 23,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000369059.5",
"protein_id": "ENSP00000358055.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 707,
"cds_start": 23,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000369060.8",
"protein_id": "ENSP00000358056.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 705,
"cds_start": 23,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000356226.8",
"protein_id": "ENSP00000348559.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 704,
"cds_start": 23,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000360144.7",
"protein_id": "ENSP00000353262.3",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 680,
"cds_start": 23,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000359354.6",
"protein_id": "ENSP00000352309.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 254,
"cds_start": 23,
"cds_end": null,
"cds_length": 765,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1680,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.284T>G",
"hgvs_p": null,
"transcript": "ENST00000490349.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.23T>G",
"hgvs_p": null,
"transcript": "ENST00000604236.5",
"protein_id": "ENSP00000474109.1",
"transcript_support_level": 1,
"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": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_022970.4",
"protein_id": "NP_075259.4",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 822,
"cds_start": 23,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001441087.1",
"protein_id": "NP_001428016.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 820,
"cds_start": 23,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001320658.2",
"protein_id": "NP_001307587.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 819,
"cds_start": 23,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000346997.6",
"protein_id": "ENSP00000263451.5",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 819,
"cds_start": 23,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000351936.11",
"protein_id": "ENSP00000309878.10",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 819,
"cds_start": 23,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000683211.1",
"protein_id": "ENSP00000508257.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 819,
"cds_start": 23,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001144913.1",
"protein_id": "NP_001138385.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 769,
"cds_start": 23,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_023029.3",
"protein_id": "NP_075418.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 732,
"cds_start": 23,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001441088.1",
"protein_id": "NP_001428017.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 731,
"cds_start": 23,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001441089.1",
"protein_id": "NP_001428018.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 730,
"cds_start": 23,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001144914.1",
"protein_id": "NP_001138386.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 709,
"cds_start": 23,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001144915.2",
"protein_id": "NP_001138387.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 707,
"cds_start": 23,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000357555.9",
"protein_id": "ENSP00000350166.5",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 707,
"cds_start": 23,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001144916.2",
"protein_id": "NP_001138388.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 706,
"cds_start": 23,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001441090.1",
"protein_id": "NP_001428019.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 706,
"cds_start": 23,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001144917.2",
"protein_id": "NP_001138389.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 705,
"cds_start": 23,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001144918.2",
"protein_id": "NP_001138390.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 704,
"cds_start": 23,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000682550.1",
"protein_id": "ENSP00000507633.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 704,
"cds_start": 23,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001144919.2",
"protein_id": "NP_001138391.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 680,
"cds_start": 23,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "NM_001441091.1",
"protein_id": "NP_001428020.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 670,
"cds_start": 23,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000684153.1",
"protein_id": "ENSP00000506937.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 670,
"cds_start": 23,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000336553.10",
"protein_id": "ENSP00000337665.6",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 668,
"cds_start": 23,
"cds_end": null,
"cds_length": 2008,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000683035.1",
"protein_id": "ENSP00000507074.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 153,
"cds_start": 23,
"cds_end": null,
"cds_length": 462,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser",
"transcript": "ENST00000611527.1",
"protein_id": "ENSP00000484892.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 64,
"cds_start": 23,
"cds_end": null,
"cds_length": 195,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.80T>G",
"hgvs_p": "p.Ile27Ser",
"transcript": "XM_006717710.5",
"protein_id": "XP_006717773.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 807,
"cds_start": 80,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.80T>G",
"hgvs_p": "p.Ile27Ser",
"transcript": "XM_017015920.3",
"protein_id": "XP_016871409.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 805,
"cds_start": 80,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.80T>G",
"hgvs_p": "p.Ile27Ser",
"transcript": "XM_017015921.3",
"protein_id": "XP_016871410.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 804,
"cds_start": 80,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.80T>G",
"hgvs_p": "p.Ile27Ser",
"transcript": "XM_024447890.2",
"protein_id": "XP_024303658.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 752,
"cds_start": 80,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.80T>G",
"hgvs_p": "p.Ile27Ser",
"transcript": "XM_024447891.2",
"protein_id": "XP_024303659.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 726,
"cds_start": 80,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4298,
"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": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.215T>G",
"hgvs_p": null,
"transcript": "ENST00000491111.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 574,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.23T>G",
"hgvs_p": null,
"transcript": "ENST00000636922.1",
"protein_id": "ENSP00000490905.1",
"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": 587,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.23T>G",
"hgvs_p": null,
"transcript": "ENST00000682400.1",
"protein_id": null,
"transcript_support_level": null,
"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": 846,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.23T>G",
"hgvs_p": null,
"transcript": "ENST00000683250.1",
"protein_id": "ENSP00000506847.1",
"transcript_support_level": null,
"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": 5108,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.23T>G",
"hgvs_p": null,
"transcript": "ENST00000683678.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1191,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.656T>G",
"hgvs_p": null,
"transcript": "NR_073009.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.-32T>G",
"hgvs_p": null,
"transcript": "ENST00000613324.4",
"protein_id": "ENSP00000481464.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"dbsnp": "rs147307031",
"frequency_reference_population": 0.00018089276,
"hom_count_reference_population": 2,
"allele_count_reference_population": 292,
"gnomad_exomes_af": 0.0000964511,
"gnomad_genomes_af": 0.00099123,
"gnomad_exomes_ac": 141,
"gnomad_genomes_ac": 151,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011899501085281372,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.354,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1693,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.881,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 13,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000457416.7",
"gene_symbol": "FGFR2",
"hgnc_id": 3689,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Ile8Ser"
}
],
"clinvar_disease": "Beare-Stevenson cutis gyrata syndrome,Craniosynostosis syndrome,Crouzon syndrome,FGFR2-related craniosynostosis,FGFR2-related disorder,Isolated Coronal Synostosis,Saethre-Chotzen syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:7 O:1",
"phenotype_combined": "not specified|not provided|Isolated Coronal Synostosis|Saethre-Chotzen syndrome|Craniosynostosis syndrome|Beare-Stevenson cutis gyrata syndrome|Crouzon syndrome|FGFR2-related craniosynostosis|FGFR2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}