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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: 4-1799792-AGGACACAGGTGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1799792&ref=AGGACACAGGTGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1799792,
"ref": "AGGACACAGGTGT",
"alt": "A",
"effect": "frameshift_variant,splice_donor_variant,splice_region_variant,intron_variant",
"transcript": "ENST00000440486.8",
"consequences": [
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "NM_000142.5",
"protein_id": "NP_000133.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 806,
"cds_start": 436,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "ENST00000440486.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "ENST00000440486.8",
"protein_id": "ENSP00000414914.2",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 806,
"cds_start": 436,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "NM_000142.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "ENST00000481110.7",
"protein_id": "ENSP00000420533.2",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 792,
"cds_start": 436,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "ENST00000352904.6",
"protein_id": "ENSP00000231803.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 694,
"cds_start": 436,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.436_445+2delGTGGACACAGGT",
"hgvs_p": null,
"transcript": "ENST00000260795.8",
"protein_id": "ENSP00000260795.3",
"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": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "NM_001163213.2",
"protein_id": "NP_001156685.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 808,
"cds_start": 436,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "ENST00000340107.9",
"protein_id": "ENSP00000339824.4",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 808,
"cds_start": 436,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "NM_001354809.2",
"protein_id": "NP_001341738.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 807,
"cds_start": 436,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.433+3_433+14delGTGGACACAGGT",
"hgvs_p": null,
"transcript": "ENST00000412135.7",
"protein_id": "ENSP00000412903.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": -4,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "NM_001354810.2",
"protein_id": "NP_001341739.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 792,
"cds_start": 436,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "NM_022965.4",
"protein_id": "NP_075254.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 694,
"cds_start": 436,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.711_720+2delGTGGACACAGGT",
"hgvs_p": null,
"transcript": "NR_148971.2",
"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": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_006713868.2",
"protein_id": "XP_006713931.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 811,
"cds_start": 436,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_047449820.1",
"protein_id": "XP_047305776.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 811,
"cds_start": 436,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_006713869.2",
"protein_id": "XP_006713932.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 810,
"cds_start": 436,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_006713870.2",
"protein_id": "XP_006713933.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 810,
"cds_start": 436,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_006713871.2",
"protein_id": "XP_006713934.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 809,
"cds_start": 436,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_011513420.2",
"protein_id": "XP_011511722.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 809,
"cds_start": 436,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_047449821.1",
"protein_id": "XP_047305777.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 809,
"cds_start": 436,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_011513422.2",
"protein_id": "XP_011511724.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 808,
"cds_start": 436,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_006713873.2",
"protein_id": "XP_006713936.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 807,
"cds_start": 436,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_047449822.1",
"protein_id": "XP_047305778.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 807,
"cds_start": 436,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_047449823.1",
"protein_id": "XP_047305779.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 807,
"cds_start": 436,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VDTG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs",
"transcript": "XM_047449824.1",
"protein_id": "XP_047305780.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 806,
"cds_start": 436,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"dbsnp": "rs1030059712",
"frequency_reference_population": 0.000017980727,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000150617,
"gnomad_genomes_af": 0.0000459988,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.471,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000440486.8",
"gene_symbol": "FGFR3",
"hgnc_id": 3690,
"effects": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.436_445+2delGTGGACACAGGT",
"hgvs_p": "p.Val146fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}