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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: 4-1805643-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1805643&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1805643,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000440486.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1619A>C",
"hgvs_p": "p.Asn540Thr",
"transcript": "NM_000142.5",
"protein_id": "NP_000133.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 806,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "ENST00000440486.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1619A>C",
"hgvs_p": "p.Asn540Thr",
"transcript": "ENST00000440486.8",
"protein_id": "ENSP00000414914.2",
"transcript_support_level": 5,
"aa_start": 540,
"aa_end": null,
"aa_length": 806,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "NM_000142.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.Asn541Thr",
"transcript": "ENST00000481110.7",
"protein_id": "ENSP00000420533.2",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 792,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1283A>C",
"hgvs_p": "p.Asn428Thr",
"transcript": "ENST00000352904.6",
"protein_id": "ENSP00000231803.1",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 694,
"cds_start": 1283,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1322,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.*675A>C",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.*675A>C",
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1625A>C",
"hgvs_p": "p.Asn542Thr",
"transcript": "NM_001163213.2",
"protein_id": "NP_001156685.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 808,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1625A>C",
"hgvs_p": "p.Asn542Thr",
"transcript": "ENST00000340107.9",
"protein_id": "ENSP00000339824.4",
"transcript_support_level": 5,
"aa_start": 542,
"aa_end": null,
"aa_length": 808,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.Asn541Thr",
"transcript": "NM_001354809.2",
"protein_id": "NP_001341738.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 807,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1607A>C",
"hgvs_p": "p.Asn536Thr",
"transcript": "ENST00000412135.7",
"protein_id": "ENSP00000412903.3",
"transcript_support_level": 5,
"aa_start": 536,
"aa_end": null,
"aa_length": 802,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.Asn541Thr",
"transcript": "NM_001354810.2",
"protein_id": "NP_001341739.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 792,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1283A>C",
"hgvs_p": "p.Asn428Thr",
"transcript": "NM_022965.4",
"protein_id": "NP_075254.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 694,
"cds_start": 1283,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1631A>C",
"hgvs_p": "p.Asn544Thr",
"transcript": "XM_006713868.2",
"protein_id": "XP_006713931.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 811,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1631A>C",
"hgvs_p": "p.Asn544Thr",
"transcript": "XM_047449820.1",
"protein_id": "XP_047305776.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 811,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1631A>C",
"hgvs_p": "p.Asn544Thr",
"transcript": "XM_006713869.2",
"protein_id": "XP_006713932.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 810,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1628A>C",
"hgvs_p": "p.Asn543Thr",
"transcript": "XM_006713870.2",
"protein_id": "XP_006713933.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 810,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1625A>C",
"hgvs_p": "p.Asn542Thr",
"transcript": "XM_006713871.2",
"protein_id": "XP_006713934.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 809,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1625A>C",
"hgvs_p": "p.Asn542Thr",
"transcript": "XM_011513420.2",
"protein_id": "XP_011511722.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 809,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1628A>C",
"hgvs_p": "p.Asn543Thr",
"transcript": "XM_047449821.1",
"protein_id": "XP_047305777.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 809,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.Asn541Thr",
"transcript": "XM_011513422.2",
"protein_id": "XP_011511724.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 808,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1619A>C",
"hgvs_p": "p.Asn540Thr",
"transcript": "XM_006713873.2",
"protein_id": "XP_006713936.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 807,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.Asn541Thr",
"transcript": "XM_047449822.1",
"protein_id": "XP_047305778.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 807,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1619A>C",
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"protein_id": "XP_047305779.1",
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"aa_start": 540,
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"aa_length": 807,
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"cdna_start": 1771,
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"cdna_length": 4181,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "FGFR3",
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"hgvs_c": "c.1619A>C",
"hgvs_p": "p.Asn540Thr",
"transcript": "XM_047449824.1",
"protein_id": "XP_047305780.1",
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"aa_start": 540,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.685A>C",
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"transcript": "ENST00000469068.1",
"protein_id": null,
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 821,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.2045A>C",
"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
}
],
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"dbsnp": "rs77722678",
"frequency_reference_population": 6.845189e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84519e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9932390451431274,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.796,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7461,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.73,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000440486.8",
"gene_symbol": "FGFR3",
"hgnc_id": 3690,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1619A>C",
"hgvs_p": "p.Asn540Thr"
}
],
"clinvar_disease": "Hypochondroplasia,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "Hypochondroplasia|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}